ID   HPSI0516i-yist_3
AC   CVCL_LF16
SY   WTSIi623-A
DR   BioSamples; SAMEA4673668
DR   ECACC; 77650724
DR   HipSci; HPSI0516i-yist_3
DR   hPSCreg; WTSIi623-A
DR   Wikidata; Q54890987
RX   PubMed=35076391;
CC   From: University College London; London; United Kingdom.
CC   From: Wellcome Trust Sanger Institute; Hinxton; United Kingdom.
CC   Population: Caucasian and Chinese.
CC   Sequence variation: Mutation; HGNC; 2206; COL4A4; Simple; p.Pro1096Ser (c.3286C>T); Zygosity=Heterozygous (PubMed=35076391).
CC   Sequence variation: Mutation; HGNC; 2207; COL4A5; Simple; p.Gly1232Asp (c.3695G>A); Zygosity=Hemizygous (PubMed=35076391).
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)
OI   CVCL_LF15 ! HPSI0516i-yist_1
SX   Male
AG   22Y
CA   Induced pluripotent stem cell
DT   Created: 22-08-17; Last updated: 29-06-23; Version: 10
//
RX   PubMed=35076391; DOI=10.7554/eLife.73486;
RA   Morais M.R.P.T., Tian P.-Y., Lawless C., Murtuza-Baker S., Hopkinson L.,
RA   Woods S., Mironov A., Long D.A., Gale D.P., Zorn T.M.T., Kimber S.J.,
RA   Zent R., Lennon R.;
RT   "Kidney organoids recapitulate human basement membrane assembly in
RT   health and disease.";
RL   eLife 11:e73486.1-e73486.30(2022).
//