ID   QDMHi001-A
AC   CVCL_A8MZ
SY   PBMC20190809-01 SeVC5
DR   BioSamples; SAMEA8268544
DR   hPSCreg; QDMHi001-A
DR   Wikidata; Q108821196
RX   PubMed=34087733;
CC   From: Qingdao Municipal Hospital; Qingdao; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 3603; FBN1; Simple; p.Cys2258Arg (c.6772T>C); ClinVar=VCV000379489; Zygosity=Heterozygous (PubMed=34087733).
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)
SX   Male
AG   33Y
CA   Induced pluripotent stem cell
DT   Created: 23-09-21; Last updated: 29-06-23; Version: 4
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RX   PubMed=34087733; DOI=10.1016/j.scr.2021.102390;
RA   Wu S.-H., Zhang Z.-D., Wang L., Yu J.;
RT   "Generation of a human iPSC line QDMHi001-A from a patient with Marfan
RT   syndrome carrying a heterozygous c.6772 T > C variant in FBN1.";
RL   Stem Cell Res. 54:102390-102390(2021).
//