Generation of an induced pluripotent stem cell line (SDQLCHi044-A) from a patient with autosomal dominant mental retardation type 5 harboring heterozygous mutation in SYNGAP1 gene
oleh: Yanxin Wang, Yuqiang Lv, Xiaomeng Yang, Yue Li, Zilong Li, Zaifen Gao, Zhongtao Gai, Yi Liu
| Format: | Article |
|---|---|
| Diterbitkan: | Elsevier 2022-10-01 |
Deskripsi
Autosomal dominant mental retardation type 5 (MRD5) is a rare neurodevelopmental disorder caused by mutations in the SYNGAP1 gene. Here, we established an induced pluripotent stem cell (iPSC) line from peripheral blood mononuclear cells (PBMCs) of a 30-month-old boy carrying a heterozygous mutation (c.2059C > T) in the SYNGAP1 gene. The iPSCs exhibited a normal karyotype, expressed pluripotency markers, and displayed differentiation potential in vitro.