ID   GM21946
AC   CVCL_HK22
DR   Coriell; GM21946
DR   Wikidata; Q54852238
CC   Sequence variation: Mutation; HGNC; HGNC:3603; FBN1; Simple; p.Cys2686Phe (c.8057G>T); ClinVar=VCV001071312; Zygosity=Unspecified (Coriell=GM21946).
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   27Y
CA   Finite cell line
DT   Created: 01-12-16; Last updated: 19-12-24; Version: 11
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