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Cellosaurus RCPCMi008-A (CVCL_A8NA)

[Text version]
Cell line name RCPCMi008-A
Synonyms IPS SCA17 sev cln4
Accession CVCL_A8NA
Resource Identification Initiative To cite this cell line use: RCPCMi008-A (RRID:CVCL_A8NA)
Comments From: Federal Research and Clinical Center of Physical-Chemical Medicine; Moscow; Russia.
Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 11588; TBP; Repeat_expansion; CAG[47]; Zygosity=Heterozygous (PubMed=34171784).
Disease Spinocerebellar ataxia type 17 (NCIt: C179861)
Spinocerebellar ataxia type 17 (ORDO: Orphanet_98759)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling Age unspecified
Category Induced pluripotent stem cell
Publications

PubMed=34171784; DOI=10.1016/j.scr.2021.102431
Shuvalova L.D., Davidenko A.V., Eremeev A.V., Khomyakova E.A., Zerkalenkova E.A., Lebedeva O.S., Bogomazova A.N., Klyushnikov S.A., Illarioshkin S.N., Lagarkova M.A.
Generation of induced pluripotent stem cell line RCPCMi008-A derived from patient with spinocerebellar ataxia 17.
Stem Cell Res. 54:102431-102431(2021)

Cross-references
Cell line databases/resources hPSCreg; RCPCMi008-A
Biological sample resources BioSamples; SAMEA8958139
Encyclopedic resources Wikidata; Q108821219
Entry history
Entry creation23-Sep-2021
Last entry update29-Jun-2023
Version number5