ID   FAHZUi001-A
AC   CVCL_A7MC
SY   CXL-ips
DR   hPSCreg; FAHZUi001-A
DR   Wikidata; Q107114948
RX   PubMed=34087990;
CC   From: The First Affiliated Hospital of Zhejiang University School of Medicine; Hangzhou; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 22947; NLRP7; Simple; p.Gln421Ter (c.1261C>T); Zygosity=Homozygous (PubMed=34087990).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C3110; Hydatidiform mole
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   38Y
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 29-06-23; Version: 4
//
RX   PubMed=34087990; DOI=10.1016/j.scr.2021.102361;
RA   Gong T.-Y., Wang H.-K., Huang B., Wang H., Zhang P.-W., Qian J.-H.;
RT   "Reprogramming of human peripheral blood mononuclear cells from a
RT   patient suffering from recurrent hydatidiform mole to an iPSC line
RT   FAHZUi001-A carrying a homozygous p.Gln421Ter mutation in NLRP7
RT   gene.";
RL   Stem Cell Res. 53:102361-102361(2021).
//