ID   GM11602
AC   CVCL_AA02
DR   CLO; CLO_0021199
DR   Coriell; GM11602
DR   Wikidata; Q54845184
RX   CelloPub=CLPUB00447;
RX   PubMed=8268926;
CC   Sequence variation: Mutation; HGNC; 7765; NF1; Simple; p.Lys1670Asnfs*7 (c.5010delG); Zygosity=Heterozygous (Coriell=GM11602).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C3273; Neurofibromatosis type 1
DI   ORDO; Orphanet_636; Neurofibromatosis type 1
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   11Y
CA   Transformed cell line
DT   Created: 23-02-16; Last updated: 30-01-24; Version: 11
//
RX   CelloPub=CLPUB00447;
RA   Mulivor R.A., Suchy S.F.;
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992).
//
RX   PubMed=8268926; DOI=10.1093/hmg/2.10.1709;
RA   Colman S.D., Collins F.S., Wallace M.R.;
RT   "Characterization of a single base-pair deletion in neurofibromatosis
RT   type 1.";
RL   Hum. Mol. Genet. 2:1709-1711(1993).
//