Cellosaurus logo
expasy logo

Cellosaurus UKERe008-A-7 (CVCL_C7FP)

[Text version]
Cell line name UKERe008-A-7
Accession CVCL_C7FP
Resource Identification Initiative To cite this cell line use: UKERe008-A-7 (RRID:CVCL_C7FP)
Comments From: Universitatsklinikum Erlangen (UKER); Erlangen; Germany.
Derived from site: In situ; Blastocyst; UBERON=UBERON_0000358.
Cell type: Embryonic stem cell; CL=CL_0002322.
Sequence variations
  • Mutation; HGNC; HGNC:2494; CTBP1; Simple_edited; p.Arg331Trp (c.991C>T); ClinVar=VCV000225758; Zygosity=Homozygous; Note=By CRISPR/Cas9 (PubMed=36610307).
Disease Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome (NCIt: C192635)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_9773 (WA09)
Sex of cell Female
Age at sampling Blastocyst stage
Category Embryonic stem cell
Publications

PubMed=36610307; DOI=10.1016/j.scr.2022.103012
Akdas E.Y., Turan S., Guhathakurta D., Ekici A., Salar S., Lie D.C.-C., Winner B., Fejtova A.
CRISPR/Cas9-mediated generation of hESC lines with homozygote and heterozygote p.R331W mutation in CTBP1 to model HADDTS syndrome.
Stem Cell Res. 67:103012-103012(2023)

Cross-references
Cell line databases/resources hPSCreg; UKERe008-A-7
Biological sample resources BioSamples; SAMEA111502286
Encyclopedic resources Wikidata; Q117704922
Entry history
Entry creation21-Mar-2023
Last entry update19-Dec-2024
Version number3