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Cellosaurus H271 C1 (CVCL_9U78)

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Cell line name H271 C1
Synonyms H271 clone 1; H271 c 1; H271
Accession CVCL_9U78
Resource Identification Initiative To cite this cell line use: H271 C1 (RRID:CVCL_9U78)
Comments From: Bioneer A/S; Horsholm; Denmark.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:10555; ATXN2; Repeat_expansion; p.Gln166[44] (p.Gln166(>=33)); ClinVar=VCV000065668; Zygosity=Heterozygous; Note=The other allele has 22 repeats (PubMed=27345803).
Disease Spinocerebellar ataxia type 2 (NCIt: C148315)
Spinocerebellar ataxia type 2 (ORDO: Orphanet_98756)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_DQ65 (H271 C1 GC)
Sex of cell Male
Age at sampling 33Y
Category Induced pluripotent stem cell
Publications

PubMed=27345803; DOI=10.1016/j.scr.2015.12.027
Adele G. Marthaler, Alisa Tubsuwan, Benjamin Schmid, Ulla Bekker Poulsen, Poul Hyttel, Jorgen E. Nielsen, Troels T. Nielsen, Bjorn Holst;
Generation of spinocerebellar ataxia type 2 patient-derived iPSC line H271.
Stem Cell Res. 16:159-161(2016)

Cross-references
Encyclopedic resources Wikidata; Q54872035
Entry history
Entry creation23-Feb-2016
Last entry update19-Dec-2024
Version number15