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Cellosaurus SDQLCHi057-A (CVCL_C9JH)

[Text version]
Cell line name SDQLCHi057-A
Accession CVCL_C9JH
Resource Identification Initiative To cite this cell line use: SDQLCHi057-A (RRID:CVCL_C9JH)
Comments From: Qilu Children's Hospital of Shandong University; Jinan; China.
Population: Chinese; Han.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 6186; IVD; Simple; p.Asn72Ser (c.215A>G); ClinVar=VCV002168221; Zygosity=Heterozygous (PubMed=38401345).
  • Mutation; HGNC; 6186; IVD; Simple; p.Met295Val (c.883A>G); Zygosity=Heterozygous (PubMed=38401345).
Disease Isovaleric acidemia (NCIt: C98964)
Isovaleric acidemia (ORDO: Orphanet_33)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 2Y7M
Category Induced pluripotent stem cell
Publications

PubMed=38401345; DOI=10.1016/j.scr.2024.103314
Liu N., Zhang Y.-A., Dong R., Lv Y.-Q., Gao M., Yang X.-M., Liu Y., Gai Z.-T.
Generation of a human induced pluripotent stem cell line (SDQLCHi057-A) from an isovaleric aciduria patient carrying novel compound heterozygous mutations in the IVD gene.
Stem Cell Res. 76:103314-103314(2024)

Cross-references
Cell line databases/resources hPSCreg; SDQLCHi057-A
Encyclopedic resources Wikidata; Q123033466
Entry history
Entry creation05-Oct-2023
Last entry update02-May-2024
Version number3