@article{911e25ced4394139929c14a13eecc929,
title = "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",
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.",
author = "Lior Dor and Tatiana Rabinski and Dor Zlotnik and Michal Shilian and Miguel Weil and Vatine, {Gad D.}",
note = "Publisher Copyright: {\textcopyright} 2021 The Author(s)",
year = "2021",
month = aug,
doi = "10.1016/j.scr.2021.102495",
language = "אנגלית",
volume = "55",
journal = "Stem Cell Research",
issn = "1873-5061",
publisher = "Elsevier B.V.",
}