ID   CHDIi010-A
AC   CVCL_VC81
SY   #10c2; HD2158; CHDI-90002158
DR   BioSamples; SAMEA4675637
DR   EBiSC; CHDIi010-A
DR   ECACC; 66541168
DR   hPSCreg; CHDIi010-A
DR   Wikidata; Q54811771
RX   PubMed=35805069;
CC   From: CHDI Foundation; New York; USA.
CC   Sequence variation: Mutation; HGNC; HGNC:4851; HTT; Repeat_expansion; p.Gln18[46] (c.52CAG(46)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Heterozygous (EBiSC=CHDIi010-A).
CC   Omics: Variations; Array-based CGH.
CC   Discontinued: ECACC; 66541168; 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   45-49Y
CA   Induced pluripotent stem cell
DT   Created: 14-05-18; Last updated: 10-04-25; Version: 13
//
RX   PubMed=35805069; DOI=10.3390/cells11131984; PMCID=PMC9265327;
RA   Molina-Ruiz, Francisco Jose
RA   Introna, Clelia
RA   Bombau, Georgina
RA   Galofre, Mireia
RA   Canals, Josep Maria
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).
//