ID   GM13717
AC   CVCL_T905
DR   CLO; CLO_0032798
DR   BioSample; SAMN00802572
DR   Coriell; GM13717
DR   Wikidata; Q54846750
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:3033; ATN1; Repeat_expansion; CAG[65] (g.17267CAG[(54-68)]); ClinVar=VCV000590267; Zygosity=Heterozygous; Note=The non-expanded allele has CAG[15] (Coriell=GM13717).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C122653; Dentatorubral-pallidoluysian atrophy
DI   ORDO; Orphanet_101; Dentatorubral pallidoluysian atrophy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   47Y
CA   Finite cell line
DT   Created: 03-02-14; Last updated: 19-12-24; Version: 15
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