ID   USCi002-A
AC   CVCL_UL46
SY   iCHARGE1; CHD7R1036X; 21C
DR   hPSCreg; USCi002-A
DR   Wikidata; Q98134361
CC   From: University of Southern California, Los Angeles; Los Angeles; USA.
CC   Sequence variation: Mutation; HGNC; 20626; CHD7; Simple; p.Arg1036Ter (c.3106C>T); ClinVar=VCV000488373; Zygosity=Unspecified (hPSCreg=USCi002-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)
CA   Induced pluripotent stem cell
DT   Created: 25-02-19; Last updated: 02-05-24; Version: 9
//