ID   GM24249
AC   CVCL_AZ14
DR   Coriell; GM24249
DR   Wikidata; Q54853661
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:6482; LAMA2; Simple; p.Leu12Arg (c.35T>G); Zygosity=Heterozygous (Coriell=GM24249).
CC   Sequence variation: Mutation; HGNC; HGNC:6482; LAMA2; Simple; p.Gln2433Ter (c.7297C>T); ClinVar=VCV002152018; Zygosity=Heterozygous (Coriell=GM24249).
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)
OI   CVCL_AZ04 ! GM24230
SX   Female
AG   6Y
CA   Transformed cell line
DT   Created: 02-05-16; Last updated: 19-12-24; Version: 11
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