ID   CMUi001-A
AC   CVCL_WG49
SY   FBN1-E2130K-iPSC
DR   hPSCreg; CMUi001-A
DR   Wikidata; Q93455820
RX   PubMed=30870686;
CC   From: Anzhen Hospital, Capital Medical University; Beijing; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 3603; FBN1; Simple; p.Glu2130Lys (c.6388G>A); ClinVar=VCV000200191; Zygosity=Heterozygous (PubMed=30870686).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
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   25Y
CA   Induced pluripotent stem cell
DT   Created: 24-05-19; Last updated: 29-06-23; Version: 8
//
RX   PubMed=30870686; DOI=10.1016/j.scr.2019.101414;
RA   Li X.-W., Dong T., Li Y., Wu F.-J., Lan F.;
RT   "Generation of a human iPSC line from a patient with Marfan syndrome
RT   caused by mutation in FBN1.";
RL   Stem Cell Res. 36:101414-101414(2019).
//