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Cellosaurus HHUUKDi005-A (CVCL_WJ48)

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Cell line name HHUUKDi005-A
Synonyms CNS705
Accession CVCL_WJ48
Resource Identification Initiative To cite this cell line use: HHUUKDi005-A (RRID:CVCL_WJ48)
Comments From: Heinrich-Heine-Universitat Dusseldorf; Dusseldorf; Germany.
Caution: The parent fibroblast seem to contain both male and female cells but the iPSC cells seem to be derived from the male cells (PubMed=33485181).
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:12530; UGT1A1; Simple; p.Tyr293Metfs*69 (c.877_890delTACATTAATGCTTCinsA) (p.Tyr292Metfs, c.874_887delTACATTAATGCTTCinsA) (879 del 13); ClinVar=VCV000012266; Zygosity=Homozygous; Note=Allele UGT1A1*2 (PubMed=33485181).
Disease Crigler-Najjar syndrome (NCIt: C84656)
Crigler-Najjar syndrome (ORDO: Orphanet_205)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_AA86 (GM09705)
Sex of cell Male
Age at sampling Age unspecified
Category Induced pluripotent stem cell
Publications

PubMed=33485181; DOI=10.1016/j.scr.2021.102167
Nina Graffmann, Soraia Martins, Tijana Ljubikj, Julie Carole Matte, Martina Bohndorf, Wasco Wruck, James Adjaye;
Generation of a Crigler-Najjar syndrome type I patient-derived induced pluripotent stem cell line CNS705 (HHUUKDi005-A).
Stem Cell Res. 51:102167-102167(2021)

Cross-references
Cell line databases/resources hPSCreg; HHUUKDi005-A
Encyclopedic resources Wikidata; Q94207200
Entry history
Entry creation24-May-2019
Last entry update19-Dec-2024
Version number7