ID   GM21499
AC   CVCL_HK07
DR   Coriell; GM21499
DR   Wikidata; Q54851946
CC   Sequence variation: Mutation; HGNC; HGNC:3603; FBN1; Simple; p.Asn28Ser (c.83A>G); ClinVar=VCV000036130; Zygosity=Heterozygous (Coriell=GM21499).
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)
OI   CVCL_HK06 ! GM21498
SX   Male
AG   47Y
CA   Finite cell line
DT   Created: 01-12-16; Last updated: 19-12-24; Version: 12
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