ID   GM28023
AC   CVCL_A5ME
DR   Coriell; GM28023
DR   Wikidata; Q107115200
CC   Population: Caucasian; Dutch.
CC   Sequence variation: Mutation; HGNC; HGNC:3603; FBN1; Simple; p.Glu1366Lys (c.4096G>A); ClinVar=VCV000200036; Zygosity=Heterozygous (Coriell=GM28023).
CC   Sequence variation: Mutation; HGNC; HGNC:11474; SURF1; Simple; p.Leu90Pro (c.269T>C); ClinVar=VCV000381516; Zygosity=Heterozygous (Coriell=GM28023).
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   45Y
CA   Finite cell line
DT   Created: 20-05-21; Last updated: 19-12-24; Version: 7
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