An integration-free iPSC line (SDQLCHi013-A) derived from a patient with maple syrup urine disease carrying compound heterozygote mutations in BCKDHA gene
The human induced pluripotent stem cell (iPSC) line SDQLCHi013-A was generated from peripheral blood mononuclear cells of a 7-day-old infant, who was diagnosed with maple syrup urine disease and carried compound heterozygote mutations (c.1280_1282 delTGG and c.632C>T) in BCKDHA gene. Non-integrat...
| Main Authors: | , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2019-12-01
|
| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506119302156 |
| _version_ | 1818982580134871040 |
|---|---|
| author | Haiyan Zhang Yanyan Ma Xiaomei Li Xiaomeng Yang Yue Li Jingyun Guan Rui Dong Zhongtao Gai Yi Liu |
| author_facet | Haiyan Zhang Yanyan Ma Xiaomei Li Xiaomeng Yang Yue Li Jingyun Guan Rui Dong Zhongtao Gai Yi Liu |
| author_sort | Haiyan Zhang |
| collection | DOAJ |
| description | The human induced pluripotent stem cell (iPSC) line SDQLCHi013-A was generated from peripheral blood mononuclear cells of a 7-day-old infant, who was diagnosed with maple syrup urine disease and carried compound heterozygote mutations (c.1280_1282 delTGG and c.632C>T) in BCKDHA gene. Non-integrating episomal vectors coding OCT4, SOX2, KLF4, BCL-XL and MYC were used for reprogramming. The established iPSC line contained the same mutations found in the patient, possessed a normal karyotype, could differentiate into cells of three germ layers in vitro and expressed pluripotency markers. |
| first_indexed | 2024-12-20T17:49:28Z |
| format | Article |
| id | doaj.art-a282b28bd7f84ad7b1c4e7768180a6a7 |
| institution | Directory Open Access Journal |
| issn | 1873-5061 |
| language | English |
| last_indexed | 2024-12-20T17:49:28Z |
| publishDate | 2019-12-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj.art-a282b28bd7f84ad7b1c4e7768180a6a72022-12-21T19:30:52ZengElsevierStem Cell Research1873-50612019-12-0141An integration-free iPSC line (SDQLCHi013-A) derived from a patient with maple syrup urine disease carrying compound heterozygote mutations in BCKDHA geneHaiyan Zhang0Yanyan Ma1Xiaomei Li2Xiaomeng Yang3Yue Li4Jingyun Guan5Rui Dong6Zhongtao Gai7Yi Liu8Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, ChinaPediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, ChinaNeonatal Department, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, ChinaPediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, ChinaPediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, ChinaPediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, ChinaPediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, ChinaPediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China; Neonatal Department, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China; Corresponding authors.Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, ChinaThe human induced pluripotent stem cell (iPSC) line SDQLCHi013-A was generated from peripheral blood mononuclear cells of a 7-day-old infant, who was diagnosed with maple syrup urine disease and carried compound heterozygote mutations (c.1280_1282 delTGG and c.632C>T) in BCKDHA gene. Non-integrating episomal vectors coding OCT4, SOX2, KLF4, BCL-XL and MYC were used for reprogramming. The established iPSC line contained the same mutations found in the patient, possessed a normal karyotype, could differentiate into cells of three germ layers in vitro and expressed pluripotency markers.http://www.sciencedirect.com/science/article/pii/S1873506119302156 |
| spellingShingle | Haiyan Zhang Yanyan Ma Xiaomei Li Xiaomeng Yang Yue Li Jingyun Guan Rui Dong Zhongtao Gai Yi Liu An integration-free iPSC line (SDQLCHi013-A) derived from a patient with maple syrup urine disease carrying compound heterozygote mutations in BCKDHA gene Stem Cell Research |
| title | An integration-free iPSC line (SDQLCHi013-A) derived from a patient with maple syrup urine disease carrying compound heterozygote mutations in BCKDHA gene |
| title_full | An integration-free iPSC line (SDQLCHi013-A) derived from a patient with maple syrup urine disease carrying compound heterozygote mutations in BCKDHA gene |
| title_fullStr | An integration-free iPSC line (SDQLCHi013-A) derived from a patient with maple syrup urine disease carrying compound heterozygote mutations in BCKDHA gene |
| title_full_unstemmed | An integration-free iPSC line (SDQLCHi013-A) derived from a patient with maple syrup urine disease carrying compound heterozygote mutations in BCKDHA gene |
| title_short | An integration-free iPSC line (SDQLCHi013-A) derived from a patient with maple syrup urine disease carrying compound heterozygote mutations in BCKDHA gene |
| title_sort | integration free ipsc line sdqlchi013 a derived from a patient with maple syrup urine disease carrying compound heterozygote mutations in bckdha gene |
| url | http://www.sciencedirect.com/science/article/pii/S1873506119302156 |
| work_keys_str_mv | AT haiyanzhang anintegrationfreeipsclinesdqlchi013aderivedfromapatientwithmaplesyrupurinediseasecarryingcompoundheterozygotemutationsinbckdhagene AT yanyanma anintegrationfreeipsclinesdqlchi013aderivedfromapatientwithmaplesyrupurinediseasecarryingcompoundheterozygotemutationsinbckdhagene AT xiaomeili anintegrationfreeipsclinesdqlchi013aderivedfromapatientwithmaplesyrupurinediseasecarryingcompoundheterozygotemutationsinbckdhagene AT xiaomengyang anintegrationfreeipsclinesdqlchi013aderivedfromapatientwithmaplesyrupurinediseasecarryingcompoundheterozygotemutationsinbckdhagene AT yueli anintegrationfreeipsclinesdqlchi013aderivedfromapatientwithmaplesyrupurinediseasecarryingcompoundheterozygotemutationsinbckdhagene AT jingyunguan anintegrationfreeipsclinesdqlchi013aderivedfromapatientwithmaplesyrupurinediseasecarryingcompoundheterozygotemutationsinbckdhagene AT ruidong anintegrationfreeipsclinesdqlchi013aderivedfromapatientwithmaplesyrupurinediseasecarryingcompoundheterozygotemutationsinbckdhagene AT zhongtaogai anintegrationfreeipsclinesdqlchi013aderivedfromapatientwithmaplesyrupurinediseasecarryingcompoundheterozygotemutationsinbckdhagene AT yiliu anintegrationfreeipsclinesdqlchi013aderivedfromapatientwithmaplesyrupurinediseasecarryingcompoundheterozygotemutationsinbckdhagene AT haiyanzhang integrationfreeipsclinesdqlchi013aderivedfromapatientwithmaplesyrupurinediseasecarryingcompoundheterozygotemutationsinbckdhagene AT yanyanma integrationfreeipsclinesdqlchi013aderivedfromapatientwithmaplesyrupurinediseasecarryingcompoundheterozygotemutationsinbckdhagene AT xiaomeili integrationfreeipsclinesdqlchi013aderivedfromapatientwithmaplesyrupurinediseasecarryingcompoundheterozygotemutationsinbckdhagene AT xiaomengyang integrationfreeipsclinesdqlchi013aderivedfromapatientwithmaplesyrupurinediseasecarryingcompoundheterozygotemutationsinbckdhagene AT yueli integrationfreeipsclinesdqlchi013aderivedfromapatientwithmaplesyrupurinediseasecarryingcompoundheterozygotemutationsinbckdhagene AT jingyunguan integrationfreeipsclinesdqlchi013aderivedfromapatientwithmaplesyrupurinediseasecarryingcompoundheterozygotemutationsinbckdhagene AT ruidong integrationfreeipsclinesdqlchi013aderivedfromapatientwithmaplesyrupurinediseasecarryingcompoundheterozygotemutationsinbckdhagene AT zhongtaogai integrationfreeipsclinesdqlchi013aderivedfromapatientwithmaplesyrupurinediseasecarryingcompoundheterozygotemutationsinbckdhagene AT yiliu integrationfreeipsclinesdqlchi013aderivedfromapatientwithmaplesyrupurinediseasecarryingcompoundheterozygotemutationsinbckdhagene |