Induced pluripotent stem cell (iPSC) lines from two individuals carrying a homozygous (BGUi007-A) and a heterozygous (BGUi006-A) mutation in ELP1 for in vitro modeling of familial dysautonomia

Lior Dor, Tatiana Rabinski, Dor Zlotnik, Michal Shilian, Miguel Weil, Gad D. Vatine

Research output: Contribution to journalArticlepeer-review

2 Scopus citations

Abstract

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.

Original languageEnglish
Article number102495
JournalStem Cell Research
Volume55
DOIs
StatePublished - 1 Aug 2021

ASJC Scopus subject areas

  • Cell Biology
  • Developmental Biology

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