ID   BCHNCi003-A
AC   CVCL_D0VM
DR   BioSamples; SAMEA114246936
DR   hPSCreg; BCHNCi003-A
DR   Wikidata; Q123030765
RX   PubMed=37769383;
CC   From: Department of Neurology, Beijing Children's Hospital; Beijing; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; HGNC:21606; MPC1; Simple; p.Ala70Thr (c.208G>A); ClinVar=VCV001236162; Zygosity=Heterozygous (PubMed=37769383).
CC   Sequence variation: Mutation; HGNC; HGNC:21606; MPC1; Simple; p.Arg97Gln (c.290G>A); ClinVar=VCV001236163; Zygosity=Heterozygous (PubMed=37769383).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C202117; Mitochondrial pyruvate carrier deficiency
DI   ORDO; Orphanet_447784; Mitochondrial pyruvate carrier deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   3Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 19-12-24; Version: 3
//
RX   PubMed=37769383; DOI=10.1016/j.scr.2023.103206;
RA   Jiang H.-F., Xu C.-L., Li W.-Y., Zhou L., Fang F.;
RT   "Generation of an induced pluripotent stem cell line (BCHNCi003-A)
RT   from a patient with mitochondrial pyruvate carrier deficiency caused
RT   by biallelic MPC1 mutations.";
RL   Stem Cell Res. 72:103206-103206(2023).
//