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Cellosaurus GM11195 (CVCL_9R90)

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Cell line name GM11195
Accession CVCL_9R90
Resource Identification Initiative To cite this cell line use: GM11195 (RRID:CVCL_9R90)
Comments 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:8582; PAH; Simple; p.Ser196_Leu197insTer (p.Leu197Terfs) (c.590_612del23); ClinVar=VCV000102745; Zygosity=Heterozygous (Coriell=GM11195).
  • Mutation; HGNC; HGNC:8582; PAH; Simple; c.912+1G>A (IVS8+1G>A); ClinVar=VCV000092752; Zygosity=Heterozygous; Note=Splice donor mutation (Coriell=GM11195).
Disease Phenylketonuria (NCIt: C81315)
Phenylketonuria (ORDO: Orphanet_716)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_D6RJ (WIMRi001-A)
Sex of cell Male
Age at sampling 8Y
Category Transformed cell line
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 collections (Providers) Coriell; GM11195
Cell line databases/resources CLO; CLO_0022990
Encyclopedic resources Wikidata; Q54844902
Entry history
Entry creation23-Feb-2016
Last entry update19-Dec-2024
Version number15