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Cellosaurus HPSI0114i-kolf_2 (CVCL_AE29)

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Cell line name HPSI0114i-kolf_2
Synonyms WTSIi018-B; KOLF2
Accession CVCL_AE29
Resource Identification Initiative To cite this cell line use: HPSI0114i-kolf_2 (RRID:CVCL_AE29)
Comments From: Cambridge BioResource; Cambridge; United Kingdom.
From: Wellcome Trust Sanger Institute; Hinxton; United Kingdom.
Population: Caucasian; British.
Omics: Genomics; Whole exome sequencing.
Omics: Genomics; Whole genome sequencing.
Omics: Proteomics.
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:18037; ARID2; Simple; p.Pro197Hisfs*12 (c.590_608delCTAAAATCATCACTTTACT); Zygosity=Heterozygous (PubMed=31216442; PubMed=31813827).
  • Mutation; HGNC; HGNC:2201; COL3A1; Simple; c.3526-1G>A; Zygosity=Heterozygous; Note=Splice acceptor mutation (PubMed=31216442; PubMed=31813827).
  • Mutation; HGNC; HGNC:2201; COL3A1; Simple; p.Gly1176Ser (c.3526G>A); Zygosity=Heterozygous (PubMed=31216442; PubMed=31813827).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_9S58 (HPSI0114i-kolf_2-C1)
Originate from same individual CVCL_JM73 ! HPSI0114i-kolf_1
CVCL_AE30 ! HPSI0114i-kolf_3
Sex of cell Male
Age at sampling 55-59Y
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 L. Beales, Ewan Birney, Davide Danovi, Angus Iain Lamond, Willem Hendrik Ouwehand, Ludovic Vallier, Fiona Mary Watt, Richard Michael Durbin, Oliver Stegle, Daniel J. Gaffney; Show fewer authors
Common genetic variation drives molecular heterogeneity in human iPSCs.
Nature 546:370-375(2017)

PubMed=31216442; DOI=10.1016/j.ymeth.2019.06.016
William C. Skarnes, Enrica Pellegrino, Justin A. McDonough;
Improving homology-directed repair efficiency in human stem cells.
Methods 164:18-28(2019)

PubMed=31813827; DOI=10.1016/j.stemcr.2019.11.003; PMCID=PMC6915802
Matthew Robert Hildebrandt, Miriam Susanne Reuter, Wei Wei, Naeimeh Tayebi, Jia-Jie Liu, Sazia Sharmin, Jaap Mulder, L. Stephen Lesperance, Patrick M. Brauer, Rebecca S.-F. Mok, Caroline Kinnear ...Show all 28 authors... , Alina Piekna, Asli Romm, Jennifer Howe, Peter Pasceri, Guo-Liang Meng, Matthew Rozycki, Deivid C. Rodrigues, Elisa C. Martinez, Michael J. Szego, Juan Carlos Zuniga-Pflucker, Michele K. Anderson, Steven A. Prescott, Norman D. Rosenblum, Binita M. Kamath, Seema Mital, Stephen Wayne Scherer, James Ellis; Show fewer authors
Precision health resource of control iPSC lines for versatile multilineage differentiation.
Stem Cell Reports 13:1126-1141(2019)

Cross-references
Cell line collections (Providers) ECACC; 77650100
Cell line databases/resources HipSci; HPSI0114i-kolf_2
hPSCreg; WTSIi018-B
SKIP; SKIP002605
Biological sample resources BioSamples; SAMEA2547615
Encyclopedic resources Wikidata; Q54890431
Gene expression databases ArrayExpress; E-MTAB-4057
Entry history
Entry creation23-Feb-2016
Last entry update10-Apr-2025
Version number16