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Cellosaurus UCLi024-A (CVCL_D0N1)

[Text version]
Cell line name UCLi024-A
Synonyms SIMD277; GOS111B
Accession CVCL_D0N1
Resource Identification Initiative To cite this cell line use: UCLi024-A (RRID:CVCL_D0N1)
Comments From: University College London; London; United Kingdom.
Population: Caucasian; British.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 746; ASL; Simple; p.Arg146Gln (c.437G>A); ClinVar=VCV000203627; Zygosity=Homozygous (PubMed=38422816).
Disease Argininosuccinic aciduria (NCIt: C84569)
Argininosuccinic aciduria (ORDO: Orphanet_23)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 11Y
Category Induced pluripotent stem cell
Publications

PubMed=38422816; DOI=10.1016/j.scr.2024.103365
Duff C., Islam M., Gagliano O., Pramod H., Rashidi H., Kurian M.A., Gissen P., Baruteau J.
Generation of induced pluripotent stem cells (UCLi024-A) from a patient with argininosuccinate lyase deficiency carrying a homozygous c.437G > A (p.Arg146Gln) mutation.
Stem Cell Res. 76:103365-103365(2024)

Cross-references
Cell line databases/resources hPSCreg; UCLi024-A
Biological sample resources BioSamples; SAMEA114335215
Encyclopedic resources Wikidata; Q123033677
Entry history
Entry creation05-Oct-2023
Last entry update10-Sep-2024
Version number3