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Cellosaurus GM11345 (CVCL_AM60)

[Text version]
Cell line name GM11345
Accession CVCL_AM60
Resource Identification Initiative To cite this cell line use: GM11345 (RRID:CVCL_AM60)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:12442; TYR; Simple; p.Pro81Leu (c.242C>T); ClinVar=VCV000003772; Zygosity=Heterozygous (Coriell=GM11345).
Disease Oculocutaneous albinism type 1A (NCIt: C168731)
Oculocutaneous albinism type 1A (ORDO: Orphanet_79431)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 42Y
Category Transformed cell line
Publications

CLPUB00447
Mulivor R.A., Suchy S.F.
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)

Cross-references
Cell line collections (Providers) Coriell; GM11345
Cell line databases/resources CLO; CLO_0026068
Encyclopedic resources Wikidata; Q54845021
Entry history
Entry creation02-May-2016
Last entry update19-Dec-2024
Version number13