Cellosaurus logo
expasy logo

Cellosaurus PH1-iPSC#2-TTRp-AGXT (CVCL_A4WG)

[Text][XML][JSON]
Cell line name PH1-iPSC#2-TTRp-AGXT
Accession CVCL_A4WG
Resource Identification Initiative To cite this cell line use: PH1-iPSC#2-TTRp-AGXT (RRID:CVCL_A4WG)
Comments From: University of Bordeaux; Bordeaux; France.
Characteristics: The transduced AGXT gene expression is under the control of transthyretin promoter (TTRp) (PubMed=31151050).
Genetic integration: Method=Transduction; Gene=HGNC; HGNC:341; AGXT.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:341; AGXT; Simple; p.Ile244Thr (c.731T>C); ClinVar=VCV000005646; Zygosity=Heterozygous; Note=No longer homozygous because of transduced wild-type gene (PubMed=31151050).
Disease Primary hyperoxaluria type I (NCIt: C123212)
Primary hyperoxaluria type 1 (ORDO: Orphanet_93598)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_A4WD (PH1-iPSC#2)
Sex of cell Male
Age at sampling Age unspecified
Category Induced pluripotent stem cell
Publications

PubMed=31151050; DOI=10.1016/j.scr.2019.101467
Julie Esteve, Jean-Marc Blouin, Magalie Lalanne, Lamia Azzi-Martin, Pierre Dubus, Audrey Bidet, Jerome Harambat, Brigitte Llanas, Isabelle Moranvillier, Aurelie Bedel, Francois Moreau-Gaudry, Emmanuel Richard;
Generation of induced pluripotent stem cells-derived hepatocyte-like cells for ex vivo gene therapy of primary hyperoxaluria type 1.
Stem Cell Res. 38:101467-101467(2019)

Cross-references
Encyclopedic resources Wikidata; Q107116661
Entry history
Entry creation20-May-2021
Last entry update19-Dec-2024
Version number7