ID   WMUi015-A
AC   CVCL_A1XT
SY   X-LAS-UiPSC
DR   hPSCreg; WMUi015-A
DR   Wikidata; Q105511761
RX   PubMed=33202306;
CC   From: Wenzhou Medical University; Wenzhou; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 2207; COL4A5; Simple; p.Gly1433Val (c.4298G>T); ClinVar=VCV000024724; Zygosity=Hemizygous (PubMed=33202306).
CC   Derived from site: In situ; Urine; UBERON=UBERON_0001088.
DI   NCIt; C34842; Alport syndrome
DI   ORDO; Orphanet_63; Alport syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   5Y
CA   Induced pluripotent stem cell
DT   Created: 12-01-21; Last updated: 29-06-23; Version: 4
//
RX   PubMed=33202306; DOI=10.1016/j.scr.2020.102085;
RA   Guo X.-L., Ji W.-P., Niu C., Ding Y.-J., Chen Z.-G., Chen C.-D.,
RA   Tong H.-F., Han Z., Chu M.-P.;
RT   "Generation of an urine-derived induced pluripotent stem cell line
RT   from a 5-year old X-linked Alport syndrome (X-LAS) patient.";
RL   Stem Cell Res. 49:102085-102085(2020).
//