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Cellosaurus GM27578 (CVCL_YE53)

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Cell line name GM27578
Synonyms GM27578*B
Accession CVCL_YE53
Resource Identification Initiative To cite this cell line use: GM27578 (RRID:CVCL_YE53)
Comments 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.Phe299Cys (c.896T>G); ClinVar=VCV000000613; Zygosity=Heterozygous (Coriell=GM27578).
  • Mutation; HGNC; HGNC:8582; PAH; Simple; p.Arg408Trp (c.1222C>T); ClinVar=VCV000000577; Zygosity=Heterozygous (Coriell=GM27578).
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
Cross-references
Cell line collections (Providers) Coriell; GM27578
Encyclopedic resources Wikidata; Q93933254
Entry history
Entry creation19-Dec-2019
Last entry update19-Dec-2024
Version number12