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Cellosaurus WIMRi004-A (CVCL_D6RM)

[Text version]
Cell line name WIMRi004-A
Synonyms PKU_FIB_02406; GM02406 C15
Accession CVCL_D6RM
Resource Identification Initiative To cite this cell line use: WIMRi004-A (RRID:CVCL_D6RM)
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.Phe299Cys (c.896T>G); ClinVar=VCV000000613; Zygosity=Heterozygous (PubMed=38555716).
  • Mutation; HGNC; 8582; PAH; Simple; p.Arg408Trp (c.1222C>T); ClinVar=VCV000000577; Zygosity=Heterozygous (PubMed=38555716).
Disease Phenylketonuria (NCIt: C81315)
Phenylketonuria (ORDO: Orphanet_716)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_W148 (GM02406)
Sex of cell Male
Age at sampling 2M
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; WIMRi004-A
Biological sample resources BioSamples; SAMEA115160192
Entry history
Entry creation10-Sep-2024
Last entry update10-Sep-2024
Version number1