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Cellosaurus MPIi008-A (CVCL_B5IT)

[Text version]
Cell line name MPIi008-A
Synonyms DDShiPS1
Accession CVCL_B5IT
Resource Identification Initiative To cite this cell line use: MPIi008-A (RRID:CVCL_B5IT)
Comments From: Max Planck Institute for Molecular Biomedicine; Munster; Germany.
Population: Caucasian.
Derived from site: In situ; Testis, tunica albuginea; UBERON=UBERON_0006610.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; HGNC:12796; WT1; Simple; p.Arg394Leu (c.181G>T); Zygosity=Heterozygous (PubMed=35667217).
Disease Denys-Drash syndrome (NCIt: C84668)
Denys-Drash syndrome (ORDO: Orphanet_220)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_QX33 (GM13495)
Sex of cell Male
Age at sampling 1Y
Category Induced pluripotent stem cell
Publications

PubMed=35667217; DOI=10.1016/j.scr.2022.102826
Doeser M.C., Krygin J., Ropke A., Han D., Wedlich-Soldner R., Scholer H.R., Pavenstadt H., Kim K.-P.
Generation of a human iPSC line (MPIi008-A) from a patient with Denys-Drash syndrome.
Stem Cell Res. 62:102826-102826(2022)

Cross-references
Cell line databases/resources hPSCreg; MPIi008-A
Encyclopedic resources Wikidata; Q110433064
Entry history
Entry creation16-Dec-2021
Last entry update19-Dec-2024
Version number6