ID   JUCTCi007-A
AC   CVCL_ZZ62
DR   hPSCreg; JUCTCi007-A
DR   SKIP; SKIP005863
DR   Wikidata; Q102114324
RX   PubMed=32645605;
CC   From: Cell Therapy Center, University of Jordan; Amman; Jordan.
CC   Population: Jordanian.
CC   Sequence variation: Mutation; HGNC; 1966; CHRNE; Simple; p.Arg331Trp (c.991C>T); ClinVar=VCV000018358; Zygosity=Homozygous (PubMed=32645605).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C174216; Congenital myasthenic syndrome-4C
DI   ORDO; Orphanet_590; Congenital myasthenic syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_ZZ63 ! JUCTCi007-B
OI   CVCL_ZZ64 ! JUCTCi007-C
SX   Female
AG   24Y
CA   Induced pluripotent stem cell
DT   Created: 29-10-20; Last updated: 29-06-23; Version: 6
//
RX   PubMed=32645605; DOI=10.1016/j.scr.2020.101906;
RA   Ababneh N.A., Al-Kurdi B., Ali D., Abuarqoub D., Barham R.,
RA   Ryalat A.T., Awidi A.;
RT   "Establishment of (JUCTCi007-A) iPSC line from a patient with
RT   congenital myasthenic syndrome (CMS) carrying a homozygous mutation
RT   p.Arg331Trp (c.991C > T) in the CHRNE gene.";
RL   Stem Cell Res. 47:101906-101906(2020).
//