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; 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: 19-12-24; Version: 11
//
RX   CelloPub=CLPUB00447;
RA   Mulivor, Richard A.
RA   Suchy, Sharon 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=9305655; DOI=10.1093/hmg/6.9.1505;
RA   Laporte, Jocelyn
RA   Guiraud-Chaumeil, Christophe
RA   Vincent, Marie-Claire
RA   Mandel, Jean-Louis
RA   Tanner, Stephan M.
RA   Gallati, Sabina
RA   Wallgren-Pettersson, Carina
RA   Dahl, Niklas
RA   Kress, Wolfram
RA   Bolhuis, Pieter A.
RA   Fardeau, Michel
RA   Samson, Francoise
RA   Bertini, Enrico
RG   ENMC International Consortium on Myotubular Myopathy;
RT   "Mutations in the MTM1 gene implicated in X-linked myotubular
RT   myopathy.";
RL   Hum. Mol. Genet. 6:1505-1511(1997).
//