期刊
STEM CELL RESEARCH
卷 55, 期 -, 页码 -出版社
ELSEVIER
DOI: 10.1016/j.scr.2021.102495
关键词
-
资金
- Israel Science Foundation (ISF) [1621/18]
- Estate Trust Committee of the Israel Ministry of Justice [20200246]
This study reported the generation of induced pluripotent stem cell lines from an FD patient and his family member, retaining the disease-causing mutation and demonstrating pluripotency markers. These cell lines can differentiate into three germ layers, indicating their potential usefulness for studying FD.
Familial Dysautonomia (FD) is an autosomal recessive congenital neuropathy affecting the development and function of the peripheral nervous system. FD causing gene is IKBKAP, encoding IkappaB kinase complex-associated protein also named elongator complex like protein 1 (IKAP/ELP1). The most common mutation (IVS20 + 6 T > C) causes an exon 20 skipping, leading to a truncated protein. We report the generation of two induced pluripotent stem cell lines from an FD patient with a homozygous mutation in ELP1 and his heterozygous healthy family relative. Both lines highly express pluripotency markers, can differentiate into the three germ layers, retain the disease-causing mutation and display normal karyotypes.
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