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Cellosaurus GM11196 (CVCL_9R91)

[Text version]
Cell line name GM11196
Accession CVCL_9R91
Resource Identification Initiative To cite this cell line use: GM11196 (RRID:CVCL_9R91)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:8582; PAH; Simple; p.Ser196_Leu197insTer (p.Leu197Terfs) (c.590_612del23); ClinVar=VCV000102745; Zygosity=Heterozygous (from familial inference of GM11195).
  • Mutation; HGNC; HGNC:8582; PAH; Simple; c.912+1G>A (IVS8+1G>A); ClinVar=VCV000092752; Zygosity=Heterozygous; Note=Splice donor mutation (from familial inference of GM11195).
Disease Phenylketonuria (NCIt: C81315)
Phenylketonuria (ORDO: Orphanet_716)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 6Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM11196
Cell line databases/resources CLO; CLO_0022986
Encyclopedic resources Wikidata; Q54844903
Entry history
Entry creation23-Feb-2016
Last entry update19-Dec-2024
Version number12