ID   FJMAi001-A
AC   CVCL_E3WY
DR   BioSamples; SAMEA115597159
DR   hPSCreg; FJMAi001-A
CC   From: Fujian Academy of Medical Sciences; Fuzhou; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; HGNC:3603; FBN1; Simple; p.Cys926Tyr (c.2777G>A); ClinVar=VCV000527216; Zygosity=Heterozygous (hPSCreg=FJMAi001-A).
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   57Y
CA   Induced pluripotent stem cell
DT   Created: 19-12-24; Last updated: 19-12-24; Version: 1
//