ID   IBMS-iPSC-057-05
AC   CVCL_A1MA
SY   IBMSi022-A
DR   BioSamples; SAMEA7438821
DR   hPSCreg; IBMSi022-A
DR   SKIP; SKIP005875
DR   Wikidata; Q102114193
RX   PubMed=33070102;
CC   From: Institute of Biomedical Sciences, Academia Sinica; Taipei; Taiwan.
CC   Population: Chinese.
CC   Sequence variation: Mutation; HGNC; 12585; UQCRC1; Simple; p.Tyr314Ser (c.941A>C); ClinVar=VCV001064663; Zygosity=Heterozygous (PubMed=33070102).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C201521; Parkinsonism with polyneuropathy
DI   ORDO; Orphanet_611237; Parkinsonism with polyneuropathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   75Y
CA   Induced pluripotent stem cell
DT   Created: 29-10-20; Last updated: 05-10-23; Version: 7
//
RX   PubMed=33070102; DOI=10.1016/j.scr.2020.102031;
RA   Ou-Yang C.-H., Lin H.-Y., Huang C.-Y., Lin C.-H.;
RT   "Generation of a human induced pluripotent stem cell (iPSC) line
RT   (IBMS-iPSC-057-05) from a patient with familial parkinsonism and
RT   polyneuropathy having a heterozygous p.Y314S mutation in UQCRC1
RT   gene.";
RL   Stem Cell Res. 49:102031-102031(2020).
//