Generation of an induced pluripotent stem cell line ATCi002-A from a two-year-old chinese boy with Keipert syndrome
Keipert syndrome（KS, OMIM:301026) is a rare X-linked recessive inherited disorder characterized by distinctive facial appearance and digital abnormalities, and the disease is caused by hemizygous mutations in the GPC4 gene encoding the heparan sulfate proteoglycan glypican 4. We first established an...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2022-04-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506122000551 |
| _version_ | 1818992504837505024 |
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| author | Xinguo Lu Jiahui Mai Liqin Liu Xiaoyu Chen Yansheng Shen |
| author_facet | Xinguo Lu Jiahui Mai Liqin Liu Xiaoyu Chen Yansheng Shen |
| author_sort | Xinguo Lu |
| collection | DOAJ |
| description | Keipert syndrome（KS, OMIM:301026) is a rare X-linked recessive inherited disorder characterized by distinctive facial appearance and digital abnormalities, and the disease is caused by hemizygous mutations in the GPC4 gene encoding the heparan sulfate proteoglycan glypican 4. We first established an induced pluripotent stem cell line (ATCi002-A) from PBMCs collected from a two-year-old boy patient with c.877 + 1G > A variant in the GPC4 gene, via reprogramming with KLF4, SOX2, OCT3/4, and c-MYC. Through identification examination, the iPSCs (ATCi002-A) stably expressed pluripotency-associated stem cell markers, and maintained a normal karyotype, and showed proliferative potential for differentiation of the three-germ layer. |
| first_indexed | 2024-12-20T20:27:13Z |
| format | Article |
| id | doaj.art-d6b24fd83f944b7b8c455b3f015ad7aa |
| institution | Directory Open Access Journal |
| issn | 1873-5061 |
| language | English |
| last_indexed | 2024-12-20T20:27:13Z |
| publishDate | 2022-04-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj.art-d6b24fd83f944b7b8c455b3f015ad7aa2022-12-21T19:27:27ZengElsevierStem Cell Research1873-50612022-04-0160102706Generation of an induced pluripotent stem cell line ATCi002-A from a two-year-old chinese boy with Keipert syndromeXinguo Lu0Jiahui Mai1Liqin Liu2Xiaoyu Chen3Yansheng Shen4Department of Neurology, Shenzhen Children’s Hospital, Shenzhen, Guangdong, ChinaDepartment of Neurology, Shenzhen Children’s Hospital, Shenzhen, Guangdong, ChinaDepartment of Neurology, Shenzhen Children’s Hospital, Shenzhen, Guangdong, ChinaDepartment of Neurology, Shenzhen Children’s Hospital, Shenzhen, Guangdong, ChinaAegicare (Shenzhen) Technology Co., Ltd., Shenzhen 518060, China; Corresponding author.Keipert syndrome（KS, OMIM:301026) is a rare X-linked recessive inherited disorder characterized by distinctive facial appearance and digital abnormalities, and the disease is caused by hemizygous mutations in the GPC4 gene encoding the heparan sulfate proteoglycan glypican 4. We first established an induced pluripotent stem cell line (ATCi002-A) from PBMCs collected from a two-year-old boy patient with c.877 + 1G > A variant in the GPC4 gene, via reprogramming with KLF4, SOX2, OCT3/4, and c-MYC. Through identification examination, the iPSCs (ATCi002-A) stably expressed pluripotency-associated stem cell markers, and maintained a normal karyotype, and showed proliferative potential for differentiation of the three-germ layer.http://www.sciencedirect.com/science/article/pii/S1873506122000551 |
| spellingShingle | Xinguo Lu Jiahui Mai Liqin Liu Xiaoyu Chen Yansheng Shen Generation of an induced pluripotent stem cell line ATCi002-A from a two-year-old chinese boy with Keipert syndrome Stem Cell Research |
| title | Generation of an induced pluripotent stem cell line ATCi002-A from a two-year-old chinese boy with Keipert syndrome |
| title_full | Generation of an induced pluripotent stem cell line ATCi002-A from a two-year-old chinese boy with Keipert syndrome |
| title_fullStr | Generation of an induced pluripotent stem cell line ATCi002-A from a two-year-old chinese boy with Keipert syndrome |
| title_full_unstemmed | Generation of an induced pluripotent stem cell line ATCi002-A from a two-year-old chinese boy with Keipert syndrome |
| title_short | Generation of an induced pluripotent stem cell line ATCi002-A from a two-year-old chinese boy with Keipert syndrome |
| title_sort | generation of an induced pluripotent stem cell line atci002 a from a two year old chinese boy with keipert syndrome |
| url | http://www.sciencedirect.com/science/article/pii/S1873506122000551 |
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