ID   PH1-iPSC#2-TTRp-AGXT
AC   CVCL_A4WG
DR   Wikidata; Q107116661
RX   PubMed=31151050;
CC   From: University of Bordeaux; Bordeaux; France.
CC   Characteristics: The transduced AGXT gene expression is under the control of transthyretin promoter (TTRp) (PubMed=31151050).
CC   Sequence variation: 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).
CC   Genetic integration: Method=Transduction; Gene=HGNC; HGNC:341; AGXT.
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C123212; Primary hyperoxaluria type I
DI   ORDO; Orphanet_93598; Primary hyperoxaluria type 1
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_A4WD ! PH1-iPSC#2
SX   Male
AG   Age unspecified
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 19-12-24; Version: 7
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RX   PubMed=31151050; DOI=10.1016/j.scr.2019.101467;
RA   Esteve J., Blouin J.-M., Lalanne M., Azzi-Martin L., Dubus P.,
RA   Bidet A., Harambat J., Llanas B., Moranvillier I., Bedel A.,
RA   Moreau-Gaudry F., Richard E.;
RT   "Generation of induced pluripotent stem cells-derived hepatocyte-like
RT   cells for ex vivo gene therapy of primary hyperoxaluria type 1.";
RL   Stem Cell Res. 38:101467-101467(2019).
//