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Cellosaurus PEIi001-A (CVCL_YC47)

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Cell line name PEIi001-A
Accession CVCL_YC47
Resource Identification Initiative To cite this cell line use: PEIi001-A (RRID:CVCL_YC47)
Comments From: Paul Ehrlich Institute; Langen; Germany.
Omics: Variations; Array-based CGH.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:9330; PQBP1; Simple; p.Arg153Serfs*41 (c.451_452AG[4]) (c.459_462delAGAG); ClinVar=VCV000010980; Zygosity=Hemizygous (PubMed=31698189).
Disease Renpenning syndrome (NCIt: C165533)
Renpenning syndrome (ORDO: Orphanet_3242)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling Age unspecified
Category Induced pluripotent stem cell
Publications

PubMed=31698189; DOI=10.1016/j.scr.2019.101592
Nina V. Fuchs, Maximilian Schieck, Michaela Neuenkirch, Christiane Tondera, Heike Schmitz, Vincent des Portes, David Germanaud, Doris Steinemann, Gudrun Gohring, Renate Konig;
Induced pluripotent stem cells (iPSCs) derived from a renpenning syndrome patient with c.459_462delAGAG mutation in PQBP1 (PEIi001-A).
Stem Cell Res. 41:101592-101592(2019)

Cross-references
Cell line databases/resources hPSCreg; PEIi001-A
Biological sample resources BioSamples; SAMEA114277733
Encyclopedic resources Wikidata; Q98128534
Entry history
Entry creation19-Dec-2019
Last entry update10-Apr-2025
Version number9