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Cellosaurus SCD166-2-3 (CVCL_RJ07)

[Text version]
Cell line name SCD166-2-3
Accession CVCL_RJ07
Resource Identification Initiative To cite this cell line use: SCD166-2-3 (RRID:CVCL_RJ07)
Comments Population: Japanese.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:1388; CACNA1A; Repeat_expansion; p.Gln2313[26] (c.6937CAG[26]) (c.6937CAG[(21_30)]); ClinVar=VCV000562099; Zygosity=Heterozygous; Note=The non-expanded allele has p.Gln2313[14] (PubMed=27806289).
Disease Spinocerebellar ataxia type 6 (NCIt: C142838)
Spinocerebellar ataxia type 6 (ORDO: Orphanet_98758)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_RJ08 ! SCD166-2-14
CVCL_RJ09 ! SCD166-2-16
Sex of cell Male
Age at sampling 55Y
Category Induced pluripotent stem cell
Publications

PubMed=27806289; DOI=10.1016/j.celrep.2016.10.026
Ishida Y., Kawakami H., Kitajima H., Nishiyama A., Sasai Y., Inoue H., Muguruma K.
Vulnerability of Purkinje cells generated from spinocerebellar ataxia type 6 patient-derived iPSCs.
Cell Rep. 17:1482-1490(2016)

Cross-references
Cell line databases/resources SKIP; SKIP001268
Encyclopedic resources Wikidata; Q54952411
Entry history
Entry creation05-Mar-2018
Last entry update19-Dec-2024
Version number10