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Cellosaurus WIMRi003-A (CVCL_D6RL)

[Text version]
Cell line name WIMRi003-A
Synonyms PKU_FIB_00937; GM00937 C12
Accession CVCL_D6RL
Resource Identification Initiative To cite this cell line use: WIMRi003-A (RRID:CVCL_D6RL)
Comments From: Westmead Institute for Medical Research; Sydney; Australia.
Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 8582; PAH; Simple; p.Phe39Leu (c.117C>G); ClinVar=VCV000000605; Zygosity=Heterozygous (PubMed=38555716).
  • Mutation; HGNC; 8582; PAH; Simple; c.1066-11G>A (IVS10-11G>A); ClinVar=VCV000000607; Zygosity=Heterozygous (PubMed=38555716).
Disease Phenylketonuria (NCIt: C81315)
Phenylketonuria (ORDO: Orphanet_716)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_W147 (GM00937)
Sex of cell Male
Age at sampling 1Y7M
Category Induced pluripotent stem cell
Publications

PubMed=38555716; DOI=10.1016/j.scr.2024.103405
Veleva D., Ay M., Ovchinnikov D.A., Prowse A.B.J., Menezes M.J., Nafisinia M.
Generation of fibroblast-derived induced pluripotent stem cell (iPSC) lines from two paediatric patients with phenylketonuria.
Stem Cell Res. 77:103405-103405(2024)

Cross-references
Cell line databases/resources hPSCreg; WIMRi003-A
Biological sample resources BioSamples; SAMEA115160137
Entry history
Entry creation10-Sep-2024
Last entry update10-Sep-2024
Version number1