ID   GM11601
AC   CVCL_AA01
DR   CLO; CLO_0021200
DR   Coriell; GM11601
DR   Wikidata; Q54845182
RX   CelloPub=CLPUB00447;
RX   PubMed=1719426;
CC   Sequence variation: 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).
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   Male
AG   31Y
CA   Transformed cell line
DT   Created: 23-02-16; Last updated: 29-06-23; 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 misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992).
//
RX   PubMed=1719426; DOI=10.1038/353864a0;
RA   Wallace M.R., Andersen L.B., Saulino A.M., Gregory P.E., Glover T.W.,
RA   Collins F.S.;
RT   "A de novo Alu insertion results in neurofibromatosis type 1.";
RL   Nature 353:864-866(1991).
//