ID   CHDIi022-A
AC   CVCL_VC93
SY   #22c1; HD2170; CHDI-90002170
DR   BioSamples; SAMEA4675651
DR   EBiSC; CHDIi022-A
DR   ECACC; 66541175
DR   hPSCreg; CHDIi022-A
DR   Wikidata; Q54811788
RX   PubMed=35805069;
CC   From: CHDI Foundation; New York; USA.
CC   Sequence variation: Mutation; HGNC; 4851; HTT; Repeat_expansion; p.Gln18[46] (c.52CAG(46)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Heterozygous (EBiSC=CHDIi022-A).
CC   Omics: Array-based CGH.
CC   Donor information: At sampling donor was not affected with Huntington disease but at significant risk for disease.
CC   Discontinued: ECACC; 66541175; true.
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C82342; Huntington's disease
DI   ORDO; Orphanet_399; Huntington disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   35-39Y
CA   Induced pluripotent stem cell
DT   Created: 14-05-18; Last updated: 30-01-24; Version: 12
//
RX   PubMed=35805069; DOI=10.3390/cells11131984;
RA   Molina-Ruiz F.J., Introna C., Bombau G., Galofre M., Canals J.M.;
RT   "Standardization of cell culture conditions and routine genomic
RT   screening under a quality management system leads to reduced genomic
RT   instability in hPSCs.";
RL   Cells 11:1984.1-1984.25(2022).
//