ID   ISMMSi001-B
SY   MFS44-16
DR   BioSamples; SAMEA104275577
DR   hPSCreg; ISMMSi001-B
DR   Wikidata; Q54898307
CC   From: Icahn School of Medicine at Mount Sinai; New York; USA.
CC   Sequence variation: Mutation; HGNC; 3603; FBN1; Simple; p.Cys1326Arg (c.3976T>C); ClinVar=VCV002137695; Zygosity=Heterozygous (from parent cell line).
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)
HI   CVCL_HK20 ! GM21944
SX   Female
AG   7Y
CA   Induced pluripotent stem cell
DT   Created: 15-11-17; Last updated: 29-06-23; Version: 10