ID   GM24509
AC   CVCL_AD90
DR   Coriell; GM24509
DR   Wikidata; Q54853766
CC   Sequence variation: Mutation; HGNC; HGNC:7448; MTM1; Simple; p.Asp394His (c.1180G>C); ClinVar=VCV000158902; Zygosity=Hemizygous (Coriell=GM24509).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
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: 13
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