ID   XJHi001-A
AC   CVCL_D0Q0
SY   iPS131-1
DR   BioSamples; SAMEA113537076
DR   hPSCreg; XJHi001-A
DR   Wikidata; Q123033940
RX   PubMed=37801747;
CC   From: Xijing Hospital; Xi'an; China.
CC   Sequence variation: Mutation; HGNC; HGNC:3778; FN1; Simple; c.5888-1G>C; Zygosity=Heterozygous; Note=Splice acceptor mutation (PubMed=37801747).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C187984; Glomerulopathy with fibronectin deposits-2
DI   ORDO; Orphanet_84090; Fibronectin glomerulopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   32Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 19-12-24; Version: 3
//
RX   PubMed=37801747; DOI=10.1016/j.scr.2023.103203;
RA   She L.-C., Li X.-Y., Bai M.;
RT   "Generation of an induced pluripotent stem cell line XJHi001-A from a
RT   fibronectin glomerulopathy patient carrying a heterozygous
RT   NM_212482.2(C.5888-1G > C) mutation in the FN1 gene.";
RL   Stem Cell Res. 72:103203-103203(2023).
//