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Cellosaurus GM13495 (CVCL_QX33)

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Cell line name GM13495
Accession CVCL_QX33
Resource Identification Initiative To cite this cell line use: GM13495 (RRID:CVCL_QX33)
Comments 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 Children:
CVCL_B5IT (MPIi008-A)
Sex of cell Male
Age at sampling 1Y
Category Finite cell line
Publications

PubMed=35667217; DOI=10.1016/j.scr.2022.102826
Markus C. Doeser, Julia Krygin, Albrecht Ropke, Dong Han, Roland Wedlich-Soldner, Hans Robert Scholer, Hermann Pavenstadt, Kee-Pyo Kim;
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 collections (Providers) Coriell; GM13495
Cell line databases/resources CLO; CLO_0012301
Biological sample resources BioSample; SAMN00802440
Encyclopedic resources Wikidata; Q54846581
Entry history
Entry creation15-Nov-2017
Last entry update19-Dec-2024
Version number9