ID   GM21944
AC   CVCL_HK20
DR   Coriell; GM21944
DR   Wikidata; Q54852236
CC   Sequence variation: Mutation; HGNC; 3603; FBN1; Simple; p.Cys1326Arg (c.3976T>C); ClinVar=VCV002137695; Zygosity=Heterozygous (Coriell=GM21944).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C34807; Marfan syndrome
DI   ORDO; Orphanet_558; Marfan syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   7Y
CA   Finite cell line
DT   Created: 01-12-16; Last updated: 30-01-24; Version: 10
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