Cellosaurus logo
expasy logo

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; 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
Lilia D. Shuvalova, Alina V. Davidenko, Artem Valerievich Eremeev, Ekaterina A. Khomyakova, Elena A. Zerkalenkova, Olga S. Lebedeva, Alexandra N. Bogomazova, Sergey A. Klyushnikov, Sergey N. Illarioshkin, Maria A. Lagarkova;
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 update19-Dec-2024
Version number6