Cellosaurus cell line PH1-iPSC#2-TTRp-eGFP (CVCL

Cross-references
Cell line name	PH1-iPSC#2-TTRp-eGFP
Accession	CVCL_A4WH
Resource Identification Initiative	To cite this cell line use: PH1-iPSC#2-TTRp-eGFP (RRID:CVCL_A4WH)
Comments	From: University of Bordeaux; Bordeaux; France. Characteristics: The transduced eGFP gene expression is under the control of transthyretin promoter (TTRp) (PubMed=31151050). Genetic integration: Method=Transduction; Gene=FPbase; R9NL8; eGFP (Note=Enhanced GFP). 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=Homozygous (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 Esteve J., Blouin J.-M., Lalanne M., Azzi-Martin L., Dubus P., Bidet A., Harambat J., Llanas B., Moranvillier I., Bedel A., Moreau-Gaudry F., Richard E. 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)
Encyclopedic resources	Wikidata; Q107116662
Entry history
Entry creation	20-May-2021
Last entry update	19-Dec-2024
Version number	7