ID   GM10680
AC   CVCL_AD71
DR   CLO; CLO_0024615
DR   BioSample; SAMN00800150
DR   Coriell; GM10680
DR   Wikidata; Q54844588
CC   Sequence variation: Mutation; HGNC; HGNC:7448; MTM1; Simple; p.Asp431Asn (c.1291G>A); ClinVar=VCV000281932; Zygosity=Hemizygous (Coriell=GM10680).
CC   Sequence variation: Mutation; HGNC; HGNC:7448; MTM1; Simple; p.Asp433Asn (c.1297G>A); ClinVar=VCV000281933; Zygosity=Hemizygous (Coriell=GM10680).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
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   1M2W
CA   Transformed cell line
DT   Created: 23-02-16; Last updated: 19-12-24; Version: 13
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