ID   GM23780
AC   CVCL_BX10
DR   Coriell; GM23780
DR   Wikidata; Q54853304
CC   Sequence variation: Mutation; HGNC; HGNC:6636; LMNA; Simple; p.Leu35Pro (c.104T>C); ClinVar=VCV000066765; Zygosity=Heterozygous (Coriell=GM23780).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C126745; Emery-Dreifuss muscular dystrophy 2, autosomal dominant
DI   ORDO; Orphanet_98853; Autosomal dominant Emery-Dreifuss muscular dystrophy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   14Y
CA   Finite cell line
DT   Created: 13-07-16; Last updated: 19-12-24; Version: 11
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