ID   GM24255
AC   CVCL_AZ17
DR   Coriell; GM24255
DR   Wikidata; Q54853668
CC   Sequence variation: Mutation; HGNC; HGNC:6482; LAMA2; Simple; p.Trp166Ter (c.498G>A); ClinVar=VCV000551094; Zygosity=Unspecified (Coriell=GM24255).
CC   Sequence variation: Mutation; HGNC; HGNC:6482; LAMA2; Simple; p.Val1138Met (c.3412G>A); ClinVar=VCV000092952; Zygosity=Unspecified (Coriell=GM24255).
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_AZ21 ! GM24261
SX   Female
AG   8Y
CA   Transformed cell line
DT   Created: 02-05-16; Last updated: 19-12-24; Version: 12
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