ID   GM21960
AC   CVCL_HK33
DR   Coriell; GM21960
DR   Wikidata; Q54852255
CC   Sequence variation: Mutation; HGNC; 3603; FBN1; Simple; p.Cys1361Tyr (c.4082G>A); ClinVar=VCV000519726; Zygosity=Heterozygous (Coriell=GM21960).
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   28Y
CA   Finite cell line
DT   Created: 01-12-16; Last updated: 30-01-24; Version: 11
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