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Cellosaurus WIMRi002-A (CVCL_D6RK)

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Cell line name WIMRi002-A
Synonyms PKU_LCL_01565
Accession CVCL_D6RK
Resource Identification Initiative To cite this cell line use: WIMRi002-A (RRID:CVCL_D6RK)
Comments From: Westmead Institute for Medical Research; Sydney; Australia.
Population: Caucasian.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:2501; CTH; Simple; p.Thr67Ile (c.200C>T); ClinVar=VCV000002939; Zygosity=Homozygous (from parent cell line).
  • Mutation; HGNC; HGNC:8582; PAH; Simple; p.Arg252Gln (c.755G>A); ClinVar=VCV000102824; Zygosity=Heterozygous (PubMed=38552357).
  • Mutation; HGNC; HGNC:8582; PAH; Simple; c.1315+1G>A (IVS12+1G>A); ClinVar=VCV000000576; Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=38552357).
Disease Cystathioninuria (NCIt: C129070)
Phenylketonuria (NCIt: C81315)
Cystathioninuria (ORDO: Orphanet_212)
Phenylketonuria (ORDO: Orphanet_716)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_9R62 (GM01565)
Sex of cell Female
Age at sampling 16Y
Category Induced pluripotent stem cell
Publications

PubMed=38552357; DOI=10.1016/j.scr.2024.103407
Desi Veleva, Merve Ay, Dmitry A. Ovchinnikov, Andrew B.J. Prowse, Minal J. Menezes, Michael Nafisinia;
Generation of two lymphoblastoid-derived induced pluripotent stem cell (iPSC) lines from patients with phenylketonuria.
Stem Cell Res. 77:103407-103407(2024)

Cross-references
Cell line databases/resources hPSCreg; WIMRi002-A
Biological sample resources BioSamples; SAMEA115160101
Entry history
Entry creation10-Sep-2024
Last entry update19-Dec-2024
Version number2