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Cellosaurus IBMS-iPSC-046-06 (CVCL_XD53)

[Text version]
Cell line name IBMS-iPSC-046-06
Accession CVCL_XD53
Resource Identification Initiative To cite this cell line use: IBMS-iPSC-046-06 (RRID:CVCL_XD53)
Comments From: Institute of Biomedical Sciences, Academia Sinica; Taipei; Taiwan.
Population: Asian.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:6239; KCND3; Simple; p.Phe227del (c.677_679TCT[1]) (c.679_681delTTC); ClinVar=VCV000066061; Zygosity=Unspecified (BCRC=SC81111).
Disease Spinocerebellar ataxia type 19/22 (NCIt: C163756)
Spinocerebellar ataxia type 19/22 (ORDO: Orphanet_98772)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 62Y
Category Induced pluripotent stem cell
Cross-references
Cell line collections (Providers) BCRC; SC81111
Cell line databases/resources SKIP; SKIP005715
Encyclopedic resources Wikidata; Q94313066
Entry history
Entry creation06-Sep-2019
Last entry update19-Dec-2024
Version number10