ID   GM23507
AC   CVCL_AY75
DR   Coriell; GM23507
DR   Wikidata; Q54853129
CC   Sequence variation: Mutation; HGNC; HGNC:6482; LAMA2; Simple; p.Cys967Ter (c.2901C>A); ClinVar=VCV000014301; Zygosity=Heterozygous (Coriell=GM23507).
CC   Sequence variation: Mutation; HGNC; HGNC:6482; LAMA2; Simple; c.6429+1G>T; ClinVar=VCV000556858; Zygosity=Heterozygous; Note=Splice donor mutation (Coriell=GM23507).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C118783; Merosin-deficient congenital muscular dystrophy type 1A
DI   ORDO; Orphanet_258; Laminin subunit alpha 2-related congenital muscular dystrophy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   3Y
CA   Transformed cell line
DT   Created: 02-05-16; Last updated: 19-12-24; Version: 12
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