ID   CHDIi048-A
AC   CVCL_VD19
SY   #125c2; CHDI-90002196
DR   BioSamples; SAMEA4675689
DR   EBiSC; CHDIi048-A
DR   ECACC; 66541194
DR   hPSCreg; CHDIi048-A
DR   Wikidata; Q54811816
CC   From: CHDI Foundation; New York; USA.
CC   Sequence variation: Mutation; HGNC; 4851; HTT; Repeat_expansion; p.Gln18[48] (c.52CAG(48)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Heterozygous (EBiSC=CHDIi048-A).
CC   Donor information: At sampling donor was not affected with Huntington disease but at significant risk for disease.
CC   Discontinued: ECACC; 66541194; 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   30-34Y
CA   Induced pluripotent stem cell
DT   Created: 14-05-18; Last updated: 30-01-24; Version: 11
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