ID   USCi001-A
AC   CVCL_UL45
SY   iCHARGE2; CHD7Q1701X; G08; 22C
DR   BioSamples; SAMEA5573421
DR   hPSCreg; USCi001-A
DR   Wikidata; Q98134359
CC   From: University of Southern California, Los Angeles; Los Angeles; USA.
CC   Sequence variation: Mutation; HGNC; 20626; CHD7; Simple; p.Gln1701Ter (c.5101C>T); ClinVar=VCV002444122; Zygosity=Unspecified (hPSCreg=USCi001-A).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C75100; CHARGE syndrome
DI   ORDO; Orphanet_138; CHARGE syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
CA   Induced pluripotent stem cell
DT   Created: 25-02-19; Last updated: 02-05-24; Version: 10
//