Cellosaurus cell line HPSI0514i-letw_5 (CVCL

Cellosaurus HPSI0514i-letw_5 (CVCL_EE95)

[Text version]

Cell line name

HPSI0514i-letw_5

Synonyms

WTSIi253-A

Accession

CVCL_EE95

Resource Identification Initiative

To cite this cell line use: HPSI0514i-letw_5 (RRID:CVCL_EE95)

Comments

From: Cambridge BioResource; Cambridge; United Kingdom.
From: Wellcome Trust Sanger Institute; Hinxton; United Kingdom.
Population: Caucasian; British.
Omics: Genomics; DNA methylation analysis.
Omics: Genomics; Whole exome sequencing.
Omics: Genomics; Whole genome sequencing.
Omics: Transcriptomics; Microarray.
Omics: Transcriptomics; RNAseq.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.

Sequence variations

Mutation; HGNC; HGNC:12442; TYR; Simple; p.Arg402Gln (c.1205G>A); ClinVar=VCV000003779; Zygosity=Homozygous (PubMed=35933957).

Species of origin

Homo sapiens (Human) (NCBI Taxonomy: 9606)

Hierarchy

Children:

CVCL_C1XT (WTSIi253-A-2)

Originate from same individual

CVCL_EE94 ! HPSI0514i-letw_1

Sex of cell

Male

Age at sampling

70-74Y

Category

Induced pluripotent stem cell

Publications

PubMed=28489815; DOI=10.1038/nature22403; PMCID=PMC5524171
Helena Kilpinen, Angela Goncalves, Andreas Leha, Vackar Afzal, Kaur Alasoo, Sofie Ashford, Sendu Bala, Dalila Bensaddek, Francesco Paolo Casale, Oliver J. Culley, Petr Danecek ...Show all 43 authors... , Adam Faulconbridge, Peter W. Harrison, Annie Kathuria, Davis McCarthy, Shane A. McCarthy, Ruta Meleckyte, Yasin Memari, Nathalie Moens, Filipa Soares, Alice Mann, Ian Streeter, Chukwuma A. Agu, Alex Alderton, Rachel Nelson, Sarah Harper, Minal J. Patel, Alistair White, Sharad R. Patel, Laura Clarke, Reena Halai, Christopher Michael Kirton, Anja Kolb-Kokocinski, Philip Beales, Ewan Birney, Davide Danovi, Angus Iain Lamond, Willem Hendrik Ouwehand, Ludovic Vallier, Fiona Mary Watt, Richard Durbin, Oliver Stegle, Daniel J. Gaffney; Show fewer authors
Common genetic variation drives molecular heterogeneity in human iPSCs.
Nature 546:370-375(2017)

PubMed=35933957; DOI=10.1016/j.scr.2022.102880
Jing-Shu Liu, Graeme C. Black, Susan J. Kimber, Panagiotis I. Sergouniotis;
Generation of a human induced pluripotent stem cell line carrying the TYR c.575C>A (p.Ser192Tyr) and c.1205G>A (p.Arg402Gln) variants in homozygous state using CRISPR-Cas9 genome editing.
Stem Cell Res. 64:102880-102880(2022)

Cross-references

Cell line collections (Providers)

ECACC; 77650396

Cell line databases/resources

HipSci; HPSI0514i-letw_5
hPSCreg; WTSIi253-A

Biological sample resources

BioSamples; SAMEA3967410

Encyclopedic resources

Wikidata; Q54890905

Gene expression databases

ArrayExpress; E-MTAB-4057

Entry history

Entry creation

13-Jul-2016

Last entry update

10-Apr-2025

Version number