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Cellosaurus HIHCNi001-A (CVCL_VG85)

[Text version]

Cell line name HIHCNi001-A
Synonyms iPSC-STUB1
Accession CVCL_VG85
Resource Identification Initiative To cite this cell line use: HIHCNi001-A (RRID:CVCL_VG85)
Comments From: Hertie Institute for Clinical Brain Research and German Center for Neurodegenerative Diseases, University of Tubingen; Tubingen; Germany.
Derived from sampling site: Skin.
Sequence variations Mutation; HGNC; 11427; STUB1; Simple; p.Arg119Ter (c.355C>T); Zygosity=Heterozygous (PubMed=29679845).
Mutation; HGNC; 11427; STUB1; Simple; p.Ile294Phe (c.880A>T); Zygosity=Heterozygous (PubMed=29679845).
Disease Spinocerebellar ataxia type 16 (NCIt: C150250)
Autosomal recessive cerebellar ataxia due to STUB1 deficiency (ORDO: Orphanet_412057)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 12Y
Category Induced pluripotent stem cell
Publications

PubMed=29679845; DOI=10.1016/j.scr.2018.04.001
Schuster S., Schelling Y., Synofzik M., Hoflinger P., Schols L., Hauser S.
Establishment of STUB1/CHIP mutant induced pluripotent stem cells (iPSCs) from a patient with Gordon Holmes syndrome/SCAR16.
Stem Cell Res. 29:166-169(2018)

Cross-references
Cell line databases/resources hPSCreg; HIHCNi001-A
Other Wikidata; Q54889541
Entry history
Entry creation14-May-2018
Last entry update20-May-2021
Version number5