ID   GM23327
AC   CVCL_AY69
DR   Coriell; GM23327
DR   Wikidata; Q54853006
CC   Sequence variation: Mutation; HGNC; HGNC:6482; LAMA2; Simple; p.Met1Thr (c.2T>C); ClinVar=VCV000477459; Zygosity=Heterozygous (Coriell=GM23327).
CC   Sequence variation: Mutation; HGNC; HGNC:6482; LAMA2; Simple; p.Gly16Alafs*29 (c.47delG); Zygosity=Heterozygous (Coriell=GM23327).
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   Male
AG   Children
CA   Finite cell line
DT   Created: 02-05-16; Last updated: 19-12-24; Version: 13
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