ID   SHCDNRi001-A
AC   CVCL_ZA37
SY   IPS-51
DR   BioSamples; SAMEA6762569
DR   hPSCreg; SHCDNRi001-A
DR   SKIP; SKIP005799
DR   Wikidata; Q98132504
RX   PubMed=32416580;
CC   From: Department of Nephrology and Rheumatology, Shanghai Children's Hospital; Shanghai; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 2207; COL4A5; Simple; p.Gly409Ser (c.1225G>A); ClinVar=VCV000975073; Zygosity=Heterozygous (PubMed=32416580).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C34842; Alport syndrome
DI   ORDO; Orphanet_63; Alport syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   40Y
CA   Induced pluripotent stem cell
DT   Created: 02-07-20; Last updated: 29-06-23; Version: 7
//
RX   PubMed=32416580; DOI=10.1016/j.scr.2020.101833;
RA   Sun L., Zhang J., Kuang X.-Y., Kang Y.-L., Wu Y., Huang W.-Y.;
RT   "Generation of an induced pluripotent stem cell line (SHCDNRi001-A)
RT   from a patient with X-linked Alport syndrome carrying a heterozygous
RT   p.G409S (c.1225 G > A) mutation in the COL4A5 gene.";
RL   Stem Cell Res. 45:101833-101833(2020).
//