ID   JUCTCi007-C
AC   CVCL_ZZ64
DR   hPSCreg; JUCTCi007-C
DR   Wikidata; Q102114328
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 (from autologous cell line JUCTCi007-A).
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_ZZ62 ! JUCTCi007-A
OI   CVCL_ZZ63 ! JUCTCi007-B
SX   Female
AG   24Y
CA   Induced pluripotent stem cell
DT   Created: 29-10-20; Last updated: 29-06-23; Version: 7
//