ID   GM21942
AC   CVCL_HK18
DR   Coriell; GM21942
DR   Wikidata; Q54852234
CC   Sequence variation: Mutation; HGNC; 3603; FBN1; Simple; p.Cys1153Tyr (c.3458G>A); ClinVar=VCV000457194; Zygosity=Unspecified (Coriell=GM21942).
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   Male
AG   Age unspecified
CA   Finite cell line
DT   Created: 01-12-16; Last updated: 30-01-24; Version: 10
//