ID   GM24528
AC   CVCL_YP31
DR   Coriell; GM24528
DR   Wikidata; Q93930128
CC   Population: Caucasian; Macedonian.
CC   Sequence variation: Mutation; HGNC; HGNC:6482; LAMA2; Simple; p.Arg2578Ter (c.7732C>T); ClinVar=VCV000014296; Zygosity=Unspecified (Coriell=GM24528).
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   Female
AG   3Y
CA   Transformed cell line
DT   Created: 12-03-20; Last updated: 19-12-24; Version: 8
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