ID   GM24219
AC   CVCL_AZ02
DR   Coriell; GM24219
DR   Wikidata; Q54853636
CC   Sequence variation: Mutation; HGNC; HGNC:6482; LAMA2; Simple; p.Cys314Trpfs*3 (c.939_940delAT); ClinVar=VCV000477529; Zygosity=Unspecified (Coriell=GM24219).
CC   Sequence variation: Mutation; HGNC; HGNC:6482; LAMA2; Simple; p.Arg1326Ter (c.3976C>T); ClinVar=VCV000092956; Zygosity=Unspecified (Coriell=GM24219).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
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   9Y
CA   Finite cell line
DT   Created: 02-05-16; Last updated: 19-12-24; Version: 12
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