Generation of an induced pluripotent stem cell line ATCi002-A from a two-year-old chinese boy with Keipert syndrome

[摘要] 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.

[学科分类] 生理学