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Cellosaurus SHCDNi007-A (CVCL_C0JI)

[Text version]
Cell line name SHCDNi007-A
Synonyms 20210812SLQZZ-C1-P6
Accession CVCL_C0JI
Resource Identification Initiative To cite this cell line use: SHCDNi007-A (RRID:CVCL_C0JI)
Comments From: Shanghai Children's Hospital, Shanghai Jiao Tong University; Shanghai; China.
Population: Chinese; Han.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 8636; PC; Simple; p.Ile61Thr (c.182T>C); Zygosity=Heterozygous (PubMed=36508859).
  • Mutation; HGNC; 8636; PC; Simple; p.Val861Met (c.2581G>A); Zygosity=Heterozygous (PubMed=36508859).
Disease Pyruvate carboxylase deficiency (NCIt: C85040)
Pyruvate carboxylase deficiency (ORDO: Orphanet_3008)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 2M
Category Induced pluripotent stem cell
Publications

PubMed=36508859; DOI=10.1016/j.scr.2022.102997
Sun J.-J., Lu P., Shen Y.-L., Ma L.
Generation of an induced pluripotent stem cell line (SHCDNi007-A) from a patient with pyruvate carboxylase deficiency carrying compound heterozygous (c.182 T > C / c.2581G > A) variants in PC.
Stem Cell Res. 66:102997-102997(2023)

Cross-references
Cell line databases/resources hPSCreg; SHCDNi007-A
Biological sample resources BioSamples; SAMEA13182979
Encyclopedic resources Wikidata; Q112930387
Entry history
Entry creation23-Jun-2022
Last entry update29-Jun-2023
Version number4