ID   BCRTi006-A
AC   CVCL_C6SR
DR   BioSamples; SAMEA112294705
DR   hPSCreg; BCRTi006-A
DR   Wikidata; Q117704208
RX   PubMed=36958215;
CC   From: Berlin-Brandenburg Center for Regenerative Therapies; Berlin; Germany.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 12338; TRPC6; Simple; p.Val691Lysfs*2 (c.2060_2070dupAAGTGAAATCA); Zygosity=Heterozygous (PubMed=36958215).
CC   Derived from site: In situ; Urine; UBERON=UBERON_0001088.
DI   NCIt; C37308; Focal segmental glomerulosclerosis
DI   ORDO; Orphanet_656; Genetic steroid-resistant nephrotic syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   45Y
CA   Induced pluripotent stem cell
DT   Created: 21-03-23; Last updated: 05-10-23; Version: 3
//
RX   PubMed=36958215; DOI=10.1016/j.scr.2023.103070;
RA   Batool L., Raab C., Beez C.M., Hariharan K., Kurtz A., Gollasch M.,
RA   Rossbach B.;
RT   "Generation of human induced pluripotent stem cell line (BCRTi006-A)
RT   from a patient with focal segmental glomerulosclerosis disease.";
RL   Stem Cell Res. 69:103070-103070(2023).
//