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Cellosaurus GM11602 (CVCL_AA02)

[Text version]
Cell line name GM11602
Accession CVCL_AA02
Resource Identification Initiative To cite this cell line use: GM11602 (RRID:CVCL_AA02)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:7765; NF1; Simple; p.Lys1670Asnfs*7 (c.5010delG); Zygosity=Heterozygous (Coriell=GM11602).
Disease Neurofibromatosis type 1 (NCIt: C3273)
Neurofibromatosis type 1 (ORDO: Orphanet_636)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 11Y
Category Transformed cell line
Publications

CLPUB00447
Richard A. Mulivor, Sharon F. Suchy;
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)

PubMed=8268926; DOI=10.1093/hmg/2.10.1709
Steven D. Colman, Francis Sellers Collins, Margaret R. Wallace;
Characterization of a single base-pair deletion in neurofibromatosis type 1.
Hum. Mol. Genet. 2:1709-1711(1993)

Cross-references
Cell line collections (Providers) Coriell; GM11602
Cell line databases/resources CLO; CLO_0021199
Encyclopedic resources Wikidata; Q54845184
Entry history
Entry creation23-Feb-2016
Last entry update19-Dec-2024
Version number12