ID   SHCDNi007-A
AC   CVCL_C0JI
SY   20210812SLQZZ-C1-P6
DR   BioSamples; SAMEA13182979
DR   hPSCreg; SHCDNi007-A
DR   Wikidata; Q112930387
RX   PubMed=36508859;
CC   From: Shanghai Children's Hospital, Shanghai Jiao Tong University; Shanghai; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 8636; PC; Simple; p.Ile61Thr (c.182T>C); Zygosity=Heterozygous (PubMed=36508859).
CC   Sequence variation: Mutation; HGNC; 8636; PC; Simple; p.Val861Met (c.2581G>A); Zygosity=Heterozygous (PubMed=36508859).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C85040; Pyruvate carboxylase deficiency
DI   ORDO; Orphanet_3008; Pyruvate carboxylase deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   2M
CA   Induced pluripotent stem cell
DT   Created: 23-06-22; Last updated: 29-06-23; Version: 4
//
RX   PubMed=36508859; DOI=10.1016/j.scr.2022.102997;
RA   Sun J.-J., Lu P., Shen Y.-L., Ma L.;
RT   "Generation of an induced pluripotent stem cell line (SHCDNi007-A)
RT   from a patient with pyruvate carboxylase deficiency carrying compound
RT   heterozygous (c.182 T > C / c.2581G > A) variants in PC.";
RL   Stem Cell Res. 66:102997-102997(2023).
//