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Cellosaurus EHTJUi002-A (CVCL_YT19)

[Text version]

Cell line name EHTJUi002-A
Synonyms DF-GMP-ZB11AR-H
Accession CVCL_YT19
Resource Identification Initiative To cite this cell line use: EHTJUi002-A (RRID:CVCL_YT19)
Comments From: East Hospital Affiliated to Tongji University; Shanghai; China.
Population: Chinese; Han.
Derived from sampling site: Umbilical cord blood.
Sequence variations
  • Mutation; HGNC; 4042; FZD4; Simple; p.Trp226Ter (c.678G>A); ClinVar=VCV000940196; Zygosity=Heterozygous (PubMed=32889247).
Disease Exudative vitreoretinopathy 1 (NCIt: C175048)
Familial exudative vitreoretinopathy (ORDO: Orphanet_891)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling <1D
Category Induced pluripotent stem cell
Publications

PubMed=32889247; DOI=10.1016/j.scr.2020.101932
Lu J.-Z., Zhang L., Zhu H.-Y., Qi Y.-Y., Bai Z.-H., Jia W.-W., Liu Z.-M.
An induced pluripotent stem cell line (EHTJUi002-A) derived from a neonate with c.678G>A mutation in the gene FZD4 causing exudative vitreoretinopathy.
Stem Cell Res. 48:101932-101932(2020)

Cross-references
Cell line databases/resources hPSCreg; EHTJUi002-A
Biological sample resources BioSamples; SAMEA6703336
Encyclopedic resources Wikidata; Q93539315
Entry history
Entry creation12-Mar-2020
Last entry update20-May-2021
Version number4