ID   CHDIi046-A
AC   CVCL_VD17
SY   #122c1; CHDI-90002194
DR   BioSamples; SAMEA4675685
DR   EBiSC; CHDIi046-A
DR   ECACC; 66541192
DR   hPSCreg; CHDIi046-A
DR   Wikidata; Q54811813
CC   From: CHDI Foundation; New York; USA.
CC   Sequence variation: Mutation; HGNC; 4851; HTT; Repeat_expansion; p.Gln18[43] (c.52CAG(43)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Heterozygous (EBiSC=CHDIi046-A).
CC   Donor information: At sampling donor was not affected with Huntington disease but at significant risk for disease.
CC   Discontinued: ECACC; 66541192; 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   Male
AG   30-34Y
CA   Induced pluripotent stem cell
DT   Created: 14-05-18; Last updated: 30-01-24; Version: 11
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