ID   GM24230
AC   CVCL_AZ04
DR   Coriell; GM24230
DR   Wikidata; Q54853643
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:6482; LAMA2; Simple; p.Leu12Arg (c.35T>G); Zygosity=Heterozygous (Coriell=GM24230).
CC   Sequence variation: Mutation; HGNC; HGNC:6482; LAMA2; Simple; p.Gln2433Ter (c.7297C>T); ClinVar=VCV002152018; Zygosity=Heterozygous (Coriell=GM24230).
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)
OI   CVCL_AZ14 ! GM24249
SX   Female
AG   6Y
CA   Finite cell line
DT   Created: 02-05-16; Last updated: 19-12-24; Version: 11
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