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Cellosaurus HIHCNi002-A (CVCL_VL41)

[Text version]
Cell line name HIHCNi002-A
Synonyms iPSC-SCA3
Accession CVCL_VL41
Resource Identification Initiative To cite this cell line use: HIHCNi002-A (RRID:CVCL_VL41)
Comments From: Hertie Institute for Clinical Brain Research and German Center for Neurodegenerative Diseases, University of Tubingen; Tubingen; Germany.
Population: Caucasian; German.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 7106; ATXN3; Repeat_expansion; c.892CAG[73]; Zygosity=Heterozygous; Note=The other allele has 24 repeats (PubMed=29936336).
Disease Spinocerebellar ataxia type 3 (NCIt: C84830)
Spinocerebellar ataxia type 3 (ORDO: Orphanet_98757)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 41Y
Category Induced pluripotent stem cell

PubMed=29936336; DOI=10.1016/j.scr.2018.06.006
Hayer S.N., Schelling Y., Huebener-Schmid J., Weber J.J., Hauser S., Schols L.
Generation of an induced pluripotent stem cell line from a patient with spinocerebellar ataxia type 3 (SCA3): HIHCNi002-A.
Stem Cell Res. 30:171-174(2018)

Cell line databases/resources hPSCreg; HIHCNi002-A
Encyclopedic resources Wikidata; Q94208294
Entry history
Entry creation07-Sep-2018
Last entry update29-Jun-2023
Version number9