ID   GM21498
AC   CVCL_HK06
DR   Coriell; GM21498
DR   Wikidata; Q54851945
CC   Sequence variation: Mutation; HGNC; HGNC:3603; FBN1; Simple; p.Asn28Ser (c.83A>G); ClinVar=VCV000036130; Zygosity=Heterozygous (Coriell=GM21498).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C34807; Marfan syndrome
DI   ORDO; Orphanet_558; Marfan syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_HK07 ! GM21499
SX   Male
AG   47Y
CA   Transformed cell line
DT   Created: 01-12-16; Last updated: 19-12-24; Version: 11
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