Cellosaurus cell line WIMRi003-A (CVCL

Cross-references
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; HGNC:8582; PAH; Simple; p.Phe39Leu (c.117C>G); ClinVar=VCV000000605; Zygosity=Heterozygous (PubMed=38555716). Mutation; HGNC; 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 Desi Veleva, Merve Ay, Dmitry A. Ovchinnikov, Andrew B.J. Prowse, Minal J. Menezes, Michael Nafisinia; Generation of fibroblast-derived induced pluripotent stem cell (iPSC) lines from two paediatric patients with phenylketonuria. Stem Cell Res. 77:103405-103405(2024)
Cell line databases/resources	hPSCreg; WIMRi003-A
Biological sample resources	BioSamples; SAMEA115160137
Entry history
Entry creation	10-Sep-2024
Last entry update	19-Dec-2024
Version number	2