ID   GM23311
AC   CVCL_F196
DR   Coriell; GM23311
DR   Wikidata; Q54852989
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:6482; LAMA2; Simple; p.Arg683Serfs*21 (c.2045_2046AG[2]) (c.2049_2050delAG); ClinVar=VCV000038340; Zygosity=Heterozygous (Coriell=GM23311).
CC   Sequence variation: Mutation; HGNC; HGNC:6482; LAMA2; Simple; p.Arg2578Ter (c.7732C>T); ClinVar=VCV000014296; Zygosity=Heterozygous (Coriell=GM23311).
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   3Y
CA   Finite cell line
DT   Created: 22-10-12; Last updated: 19-12-24; Version: 15
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