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Cellosaurus BCRTi006-A (CVCL_C6SR)

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Cell line name BCRTi006-A
Accession CVCL_C6SR
Resource Identification Initiative To cite this cell line use: BCRTi006-A (RRID:CVCL_C6SR)
Comments From: Berlin-Brandenburg Center for Regenerative Therapies; Berlin; Germany.
Population: Caucasian.
Derived from site: In situ; Urine; UBERON=UBERON_0001088.
Sequence variations
  • Mutation; HGNC; HGNC:12338; TRPC6; Simple; p.Val691Lysfs*2 (c.2060_2070dupAAGTGAAATCA); Zygosity=Heterozygous (PubMed=36958215).
Disease Focal segmental glomerulosclerosis 2 (NCIt: C205635)
Genetic steroid-resistant nephrotic syndrome (ORDO: Orphanet_656)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 45Y
Category Induced pluripotent stem cell
Publications

PubMed=36958215; DOI=10.1016/j.scr.2023.103070
Lilas Batool, Constanze Raab, Christien Madlen Beez, Krithika Hariharan, Andreas Kurtz, Maik Gollasch, Bella Rossbach;
Generation of human induced pluripotent stem cell line (BCRTi006-A) from a patient with focal segmental glomerulosclerosis disease.
Stem Cell Res. 69:103070-103070(2023)

Cross-references
Cell line databases/resources hPSCreg; BCRTi006-A
Biological sample resources BioSamples; SAMEA112294705
Encyclopedic resources Wikidata; Q117704208
Entry history
Entry creation21-Mar-2023
Last entry update19-Dec-2024
Version number5