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Cellosaurus GM11601 (CVCL_AA01)

[Text version]
Cell line name GM11601
Accession CVCL_AA01
Resource Identification Initiative To cite this cell line use: GM11601 (RRID:CVCL_AA01)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 7765; NF1; Unexplicit; Alu Ins; ClinVar=VCV000000332; Zygosity=Heterozygous; Note=De novo Alu repeat insertion in intron between exons 5 and 6 that causes mis-splicing (PubMed=1719426).
Disease Neurofibromatosis type 1 (NCIt: C3273)
Neurofibromatosis type 1 (ORDO: Orphanet_636)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 31Y
Category Transformed cell line
Publications

PubMed=1719426; DOI=10.1038/353864a0
Wallace M.R., Andersen L.B., Saulino A.M., Gregory P.E., Glover T.W., Collins F.S.
A de novo Alu insertion results in neurofibromatosis type 1.
Nature 353:864-866(1991)

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

Cross-references
Cell line collections (Providers) Coriell; GM11601
Cell line databases/resources CLO; CLO_0021200
Encyclopedic resources Wikidata; Q54845182
Entry history
Entry creation23-Feb-2016
Last entry update29-Jun-2023
Version number11