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Cellosaurus GM13716 (CVCL_T902)

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Cell line name GM13716
Accession CVCL_T902
Resource Identification Initiative To cite this cell line use: GM13716 (RRID:CVCL_T902)
Comments Population: Caucasian.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; HGNC:3033; ATN1; Repeat_expansion; CAG[68] (g.17267CAG[(54-68)]); ClinVar=VCV000590267; Zygosity=Heterozygous; Note=The non-expanded allele has CAG[16] (Coriell=GM13716).
Disease Dentatorubral-pallidoluysian atrophy (NCIt: C122653)
Dentatorubral pallidoluysian atrophy (ORDO: Orphanet_101)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_XC40 (IBCHi001-A)
Sex of cell Male
Age at sampling 15Y
Category Finite cell line
Publications

PubMed=23364790; DOI=10.1074/jbc.M112.408211; PMCID=PMC3605623
Yoshihiro Nihei, Daisuke Ito, Yohei Okada, Wado Akamatsu, Takuya Yagi, Takahito Yoshizaki, Hideyuki Okano, Norihiro Suzuki;
Enhanced aggregation of androgen receptor in induced pluripotent stem cell-derived neurons from spinal and bulbar muscular atrophy.
J. Biol. Chem. 288:8043-8052(2013)

Cross-references
Cell line collections (Providers) Coriell; GM13716
Cell line databases/resources CLO; CLO_0032792
Biological sample resources BioSample; SAMN00802570
Encyclopedic resources Wikidata; Q54846749
Entry history
Entry creation03-Feb-2014
Last entry update19-Dec-2024
Version number16