ID   GM21947
AC   CVCL_HK23
DR   Coriell; GM21947
DR   Wikidata; Q54852239
CC   Sequence variation: Mutation; HGNC; HGNC:3603; FBN1; Simple; p.Cys499Arg (c.1495T>C); Zygosity=Unspecified (Coriell=GM21947).
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   50Y
CA   Finite cell line
DT   Created: 01-12-16; Last updated: 19-12-24; Version: 10
//