ID   ISMMSi002-B
AC   CVCL_QX46
SY   MFS60-3-1; 60#3-1
DR   BioSamples; SAMEA104276575
DR   hPSCreg; ISMMSi002-B
DR   Wikidata; Q54898317
RX   PubMed=28925368;
CC   From: Icahn School of Medicine at Mount Sinai; New York; USA.
CC   Sequence variation: Mutation; HGNC; HGNC:3603; FBN1; Simple; p.Cys1361Tyr (c.4082G>A); ClinVar=VCV000519726; Zygosity=Heterozygous (PubMed=28925368).
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_HK33 ! GM21960
SX   Female
AG   28Y
CA   Induced pluripotent stem cell
DT   Created: 15-11-17; Last updated: 19-12-24; Version: 11
//
RX   PubMed=28925368; DOI=10.1016/j.scr.2017.06.016;
RA   Klein, Sandra
RA   Dvornik, Jill L.
RA   Yarrabothula, Akshitha R.
RA   Schaniel, Christoph
RT   "A Marfan syndrome human induced pluripotent stem cell line with a
RT   heterozygous FBN1 c.4082G>A mutation, ISMMSi002-B, for disease
RT   modeling.";
RL   Stem Cell Res. 23:73-76(2017).
//