ID   CHDIi049-A
AC   CVCL_VD20
SY   #127c2; HD2197; CHDI-90002197
DR   BioSamples; SAMEA4675691
DR   EBiSC; CHDIi049-A
DR   ECACC; 66541195
DR   hPSCreg; CHDIi049-A
DR   Wikidata; Q54811817
RX   PubMed=35805069;
CC   From: CHDI Foundation; New York; USA.
CC   Sequence variation: Mutation; HGNC; HGNC:4851; HTT; Repeat_expansion; p.Gln18[44] (c.52CAG(44)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Heterozygous (EBiSC=CHDIi049-A).
CC   Omics: Variations; Array-based CGH.
CC   Discontinued: ECACC; 66541195; 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   40-44Y
CA   Induced pluripotent stem cell
DT   Created: 14-05-18; Last updated: 10-04-25; Version: 14
//
RX   PubMed=35805069; DOI=10.3390/cells11131984; PMCID=PMC9265327;
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).
//