Establishment of an induced pluripotent stem cell (iPSC) line SDQLCHi045-A from peripheral blood mononuclear cells of a patient with Coffin-Siris syndrome 1 carrying a mutation in ARID1B gene
Coffin-Siris syndrome 1 (CSS1) is a multiple malformation syndrome characterized by mental retardation associated with coarse facial features, hypertrichosis, sparse scalp hair, and hypoplastic or absent fifth fingernails or toenails. Mutations in the ARID1B gene are the most common cause of CSS1. H...
| Main Authors: | , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2023-02-01
|
| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506122003312 |
| _version_ | 1797956243725221888 |
|---|---|
| author | Xiaomeng Yang Chen Liu Haiyan Zhang Yuqiang Lv Yue Li Zilong Li Yi Liu Zhongtao Gai |
| author_facet | Xiaomeng Yang Chen Liu Haiyan Zhang Yuqiang Lv Yue Li Zilong Li Yi Liu Zhongtao Gai |
| author_sort | Xiaomeng Yang |
| collection | DOAJ |
| description | Coffin-Siris syndrome 1 (CSS1) is a multiple malformation syndrome characterized by mental retardation associated with coarse facial features, hypertrichosis, sparse scalp hair, and hypoplastic or absent fifth fingernails or toenails. Mutations in the ARID1B gene are the most common cause of CSS1. Here, we generated an induced pluripotent stem cell line SDQLCHi045-A from a one-year-old girl with CSS1 caused by heterozygous mutation (c.1924C>T, p.Q642X) in the ARID1B gene (OMIM*135900). The established iPSC line was validated by pluripotency markers, original gene mutation and demonstrated trilineage differentiation potential in vitro. |
| first_indexed | 2024-04-10T23:45:56Z |
| format | Article |
| id | doaj.art-790ad3f58a58481c91c34bc92f82399f |
| institution | Directory Open Access Journal |
| issn | 1873-5061 |
| language | English |
| last_indexed | 2024-04-10T23:45:56Z |
| publishDate | 2023-02-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj.art-790ad3f58a58481c91c34bc92f82399f2023-01-11T04:28:25ZengElsevierStem Cell Research1873-50612023-02-0166102982Establishment of an induced pluripotent stem cell (iPSC) line SDQLCHi045-A from peripheral blood mononuclear cells of a patient with Coffin-Siris syndrome 1 carrying a mutation in ARID1B geneXiaomeng Yang0Chen Liu1Haiyan Zhang2Yuqiang Lv3Yue Li4Zilong Li5Yi Liu6Zhongtao Gai7Pediatric Research Institute, Children’s Hospital Affiliated to Shandong University, Jinan 250022, China; Shandong Provincial Clinical Research Center for Children’s Health and Disease, Jinan 250022, ChinaNeonatology Department, Children’s Hospital Affiliated to Shandong University, Jinan 250022, China; Shandong Provincial Clinical Research Center for Children’s Health and Disease, Jinan 250022, ChinaPediatric Research Institute, Children’s Hospital Affiliated to Shandong University, Jinan 250022, China; Shandong Provincial Clinical Research Center for Children’s Health and Disease, Jinan 250022, ChinaPediatric Research Institute, Children’s Hospital Affiliated to Shandong University, Jinan 250022, China; Shandong Provincial Clinical Research Center for Children’s Health and Disease, Jinan 250022, ChinaPediatric Research Institute, Children’s Hospital Affiliated to Shandong University, Jinan 250022, China; Shandong Provincial Clinical Research Center for Children’s Health and Disease, Jinan 250022, ChinaPediatric Research Institute, Children’s Hospital Affiliated to Shandong University, Jinan 250022, China; Shandong Provincial Clinical Research Center for Children’s Health and Disease, Jinan 250022, ChinaPediatric Research Institute, Children’s Hospital Affiliated to Shandong University, Jinan 250022, China; Shandong Provincial Clinical Research Center for Children’s Health and Disease, Jinan 250022, China; Corresponding authors.Pediatric Research Institute, Children’s Hospital Affiliated to Shandong University, Jinan 250022, China; Shandong Provincial Clinical Research Center for Children’s Health and Disease, Jinan 250022, China; Corresponding authors.Coffin-Siris syndrome 1 (CSS1) is a multiple malformation syndrome characterized by mental retardation associated with coarse facial features, hypertrichosis, sparse scalp hair, and hypoplastic or absent fifth fingernails or toenails. Mutations in the ARID1B gene are the most common cause of CSS1. Here, we generated an induced pluripotent stem cell line SDQLCHi045-A from a one-year-old girl with CSS1 caused by heterozygous mutation (c.1924C>T, p.Q642X) in the ARID1B gene (OMIM*135900). The established iPSC line was validated by pluripotency markers, original gene mutation and demonstrated trilineage differentiation potential in vitro.http://www.sciencedirect.com/science/article/pii/S1873506122003312 |
| spellingShingle | Xiaomeng Yang Chen Liu Haiyan Zhang Yuqiang Lv Yue Li Zilong Li Yi Liu Zhongtao Gai Establishment of an induced pluripotent stem cell (iPSC) line SDQLCHi045-A from peripheral blood mononuclear cells of a patient with Coffin-Siris syndrome 1 carrying a mutation in ARID1B gene Stem Cell Research |
| title | Establishment of an induced pluripotent stem cell (iPSC) line SDQLCHi045-A from peripheral blood mononuclear cells of a patient with Coffin-Siris syndrome 1 carrying a mutation in ARID1B gene |
| title_full | Establishment of an induced pluripotent stem cell (iPSC) line SDQLCHi045-A from peripheral blood mononuclear cells of a patient with Coffin-Siris syndrome 1 carrying a mutation in ARID1B gene |
| title_fullStr | Establishment of an induced pluripotent stem cell (iPSC) line SDQLCHi045-A from peripheral blood mononuclear cells of a patient with Coffin-Siris syndrome 1 carrying a mutation in ARID1B gene |
| title_full_unstemmed | Establishment of an induced pluripotent stem cell (iPSC) line SDQLCHi045-A from peripheral blood mononuclear cells of a patient with Coffin-Siris syndrome 1 carrying a mutation in ARID1B gene |
| title_short | Establishment of an induced pluripotent stem cell (iPSC) line SDQLCHi045-A from peripheral blood mononuclear cells of a patient with Coffin-Siris syndrome 1 carrying a mutation in ARID1B gene |
| title_sort | establishment of an induced pluripotent stem cell ipsc line sdqlchi045 a from peripheral blood mononuclear cells of a patient with coffin siris syndrome 1 carrying a mutation in arid1b gene |
| url | http://www.sciencedirect.com/science/article/pii/S1873506122003312 |
| work_keys_str_mv | AT xiaomengyang establishmentofaninducedpluripotentstemcellipsclinesdqlchi045afromperipheralbloodmononuclearcellsofapatientwithcoffinsirissyndrome1carryingamutationinarid1bgene AT chenliu establishmentofaninducedpluripotentstemcellipsclinesdqlchi045afromperipheralbloodmononuclearcellsofapatientwithcoffinsirissyndrome1carryingamutationinarid1bgene AT haiyanzhang establishmentofaninducedpluripotentstemcellipsclinesdqlchi045afromperipheralbloodmononuclearcellsofapatientwithcoffinsirissyndrome1carryingamutationinarid1bgene AT yuqianglv establishmentofaninducedpluripotentstemcellipsclinesdqlchi045afromperipheralbloodmononuclearcellsofapatientwithcoffinsirissyndrome1carryingamutationinarid1bgene AT yueli establishmentofaninducedpluripotentstemcellipsclinesdqlchi045afromperipheralbloodmononuclearcellsofapatientwithcoffinsirissyndrome1carryingamutationinarid1bgene AT zilongli establishmentofaninducedpluripotentstemcellipsclinesdqlchi045afromperipheralbloodmononuclearcellsofapatientwithcoffinsirissyndrome1carryingamutationinarid1bgene AT yiliu establishmentofaninducedpluripotentstemcellipsclinesdqlchi045afromperipheralbloodmononuclearcellsofapatientwithcoffinsirissyndrome1carryingamutationinarid1bgene AT zhongtaogai establishmentofaninducedpluripotentstemcellipsclinesdqlchi045afromperipheralbloodmononuclearcellsofapatientwithcoffinsirissyndrome1carryingamutationinarid1bgene |