ID   BGUi007-A
AC   CVCL_A4ZK
SY   BGU07iFD; BGU07iFDN
DR   hPSCreg; BGUi007-A
DR   Wikidata; Q107113454
RX   PubMed=34419746;
WW   Provider; BGU; -; https://www.vatinelab.com/about-3
CC   From: Ben Gurion University of the Negev; Beer Sheva; Israel.
CC   Population: Jewish; Ashkenazi.
CC   Sequence variation: Mutation; HGNC; HGNC:5959; ELP1; Simple; c.2204+6T>C (2507+6T>C) (IVS20+6T>C) (Ex20del); ClinVar=VCV000006085; Zygosity=Homozygous (PubMed=34419746).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C84706; Familial dysautonomia
DI   ORDO; Orphanet_1764; Familial dysautonomia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   29Y
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 10-04-25; Version: 8
//
RX   PubMed=34419746; DOI=10.1016/j.scr.2021.102495;
RA   Dor, Lior
RA   Rabinski, Tatiana
RA   Zlotnik, Dor
RA   Shilian, Michal
RA   Weil, Miguel
RA   Vatine, Gad D.
RT   "Induced pluripotent stem cell (iPSC) lines from two individuals
RT   carrying a homozygous (BGUi007-A) and a heterozygous (BGUi006-A)
RT   mutation in ELP1 for in vitro modeling of familial dysautonomia.";
RL   Stem Cell Res. 55:102495-102495(2021).
//