ID   GM23670
AC   CVCL_AY80
DR   Coriell; GM23670
DR   Wikidata; Q54853213
CC   Sequence variation: Mutation; HGNC; HGNC:6482; LAMA2; Simple; p.Asp2498Ilefs*49 (c.7491delA); Zygosity=Heterozygous (Coriell=GM23670).
CC   Sequence variation: Mutation; HGNC; HGNC:6482; LAMA2; Simple; c.8244+3_8244+6delAAGT (c.8244+3_+6delAAGT); ClinVar=VCV000447695; Zygosity=Heterozygous (Coriell=GM23670).
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   15Y
CA   Transformed cell line
DT   Created: 02-05-16; Last updated: 19-12-24; Version: 11
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