Cellosaurus logo
expasy logo

Cellosaurus IBMS-iPSC-057-05 (CVCL_A1MA)

[Text version]
Cell line name IBMS-iPSC-057-05
Synonyms IBMSi022-A
Accession CVCL_A1MA
Resource Identification Initiative To cite this cell line use: IBMS-iPSC-057-05 (RRID:CVCL_A1MA)
Comments From: Institute of Biomedical Sciences, Academia Sinica; Taipei; Taiwan.
Population: Chinese.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 12585; UQCRC1; Simple; p.Tyr314Ser (c.941A>C); ClinVar=VCV001064663; Zygosity=Heterozygous (PubMed=33070102).
Disease Parkinsonism with polyneuropathy (NCIt: C201521)
Parkinsonism with polyneuropathy (ORDO: Orphanet_611237)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 75Y
Category Induced pluripotent stem cell
Publications

PubMed=33070102; DOI=10.1016/j.scr.2020.102031
Ou-Yang C.-H., Lin H.-Y., Huang C.-Y., Lin C.-H.
Generation of a human induced pluripotent stem cell (iPSC) line (IBMS-iPSC-057-05) from a patient with familial parkinsonism and polyneuropathy having a heterozygous p.Y314S mutation in UQCRC1 gene.
Stem Cell Res. 49:102031-102031(2020)

Cross-references
Cell line databases/resources hPSCreg; IBMSi022-A
SKIP; SKIP005875
Biological sample resources BioSamples; SAMEA7438821
Encyclopedic resources Wikidata; Q102114193
Entry history
Entry creation29-Oct-2020
Last entry update05-Oct-2023
Version number7