| Cell line name |
GM06813 |
|---|
| Synonyms |
GM-06813 |
|---|
| Accession |
CVCL_AD70 |
|---|
| Resource Identification Initiative |
To cite this cell line use: GM06813 (RRID:CVCL_AD70) |
|---|
| Comments |
Population: Caucasian.
Cell type: Fibroblast; CL=CL_0000057. |
|---|
| Sequence variations |
- Mutation; HGNC; HGNC:7448; MTM1; Simple; p.Tyr198Asnfs*52 (c.592_594delinsAA) (646delT and 648C>A); Zygosity=Hemizygous (PubMed=9305655).
|
|---|
| Disease |
X-linked centronuclear myopathy (NCIt: C118781)
X-linked centronuclear myopathy (ORDO: Orphanet_596) |
|---|
| Species of origin |
Homo sapiens (Human)
(NCBI Taxonomy: 9606) |
|---|
| Sex of cell |
Male |
|---|
| Age at sampling |
1M |
|---|
| Category |
Finite cell line |
|---|
| Publications | CLPUB00447
Richard A. Mulivor, Sharon F. Suchy;
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992) PubMed=9305655; DOI=10.1093/hmg/6.9.1505
Jocelyn Laporte, Christophe Guiraud-Chaumeil, Marie-Claire Vincent, Jean-Louis Mandel, Stephan M. Tanner, Sabina Liechti-Gallati, Carina Wallgren-Pettersson, Niklas Dahl, Wolfram Kress, Pieter A. Bolhuis, Michel Fardeau ...Show all 13 authors... , Francoise Samson, Enrico Bertini; Show fewer authorsENMC International Consortium on Myotubular Myopathy
Mutations in the MTM1 gene implicated in X-linked myotubular myopathy.
Hum. Mol. Genet. 6:1505-1511(1997) |
|---|
| Cross-references |
|---|
| Cell line collections (Providers) |
Coriell; GM06813
|
|---|
| Cell line databases/resources |
CLO; CLO_0036532
|
|---|
| Encyclopedic resources |
Wikidata; Q54842343
|
|---|
| Entry history |
|---|
| Entry creation | 23-Feb-2016 |
|---|
| Last entry update | 19-Dec-2024 |
|---|
| Version number | 11 |
|---|
