ID   FUHSi001-A
AC   CVCL_C0H5
SY   GD09006
DR   BioSamples; SAMEA11347817
DR   hPSCreg; FUHSi001-A
DR   Wikidata; Q112929573
RX   PubMed=35339882;
CC   From: Huashan Hospital of Fudan University; Shanghai; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 3603; FBN1; Simple; p.Pro620Ser (c.1858C>T); ClinVar=VCV000924443; Zygosity=Heterozygous (PubMed=35339882).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C99704; Arterial dissection
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   38Y
CA   Induced pluripotent stem cell
DT   Created: 23-06-22; Last updated: 29-06-23; Version: 4
//
RX   PubMed=35339882; DOI=10.1016/j.scr.2022.102759;
RA   Lin A.-Q., Kang X.-C., Xu Y., Feng X.-C., Zhang S.-F., Zhao H.-C.,
RA   Wu D.-H., Han X.;
RT   "Human induced pluripotent stem cells derived from a patient with a
RT   mutation of FBN1c.1858C > T (p. Pro620Ser).";
RL   Stem Cell Res. 61:102759-102759(2022).
//