ID   GM06813
AC   CVCL_AD70
SY   GM-06813
DR   CLO; CLO_0036532
DR   Coriell; GM06813
DR   Wikidata; Q54842343
RX   CelloPub=CLPUB00447;
RX   PubMed=9305655;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 7448; MTM1; Simple; p.Tyr198Asnfs*52 (c.592_594delinsAA) (646delT and 648C>A); Zygosity=Hemizygous (PubMed=9305655).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C118781; X-linked centronuclear myopathy
DI   ORDO; Orphanet_596; X-linked centronuclear myopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   1M
CA   Finite cell line
DT   Created: 23-02-16; Last updated: 29-06-23; Version: 10
//
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=9305655; DOI=10.1093/hmg/6.9.1505;
RA   Laporte J., Guiraud-Chaumeil C., Vincent M.-C., Mandel J.-L.,
RA   Tanner S.M., Liechti-Gallati S., Wallgren-Pettersson C., Dahl N.,
RA   Kress W., Bolhuis P.A., Fardeau M., Samson F., Bertini E.;
RT   "Mutations in the MTM1 gene implicated in X-linked myotubular
RT   myopathy.";
RL   Hum. Mol. Genet. 6:1505-1511(1997).
//