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Cellosaurus HPSI0114i-kolf_2-C1 (CVCL_9S58)

[Text version]
Cell line name HPSI0114i-kolf_2-C1
Synonyms HPSI0114i-Kolf_2-C1; KOLF2-C1; WTSIi018-B-1; WTSIi018-C; WTSIi043-A
Accession CVCL_9S58
Resource Identification Initiative To cite this cell line use: HPSI0114i-kolf_2-C1 (RRID:CVCL_9S58)
Comments From: Wellcome Trust Sanger Institute; Hinxton; United Kingdom.
Population: Caucasian; British.
Omics: Genome sequenced.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 18037; ARID2; Simple; p.Pro197Hisfs*12 (c.590_608delCTAAAATCATCACTTTACT); Zygosity=Heterozygous (PubMed=31216442).
  • Mutation; HGNC; 2201; COL3A1; Simple; c.3526-1G>A; Zygosity=Heterozygous; Note=Splice acceptor mutation (PubMed=31216442).
  • Mutation; HGNC; 2201; COL3A1; Simple; p.Gly1176Ser (c.3526G>A); Zygosity=Heterozygous (PubMed=31216442).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_AE29 (HPSI0114i-kolf_2)
Children:
CVCL_B5P3 (KOLF2.1J)
Sex of cell Male
Age at sampling 55-59Y
Category Induced pluripotent stem cell
Publications

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

PubMed=36459969; DOI=10.1016/j.stem.2022.11.004
Pantazis C.B., Yang A., Lara E., McDonough J.A., Blauwendraat C., Peng L.-R., Oguro H., Kanaujiya J., Zou J.-Z., Sebesta D., Pratt G., Cross E., Blockwick J., Buxton P., Kinner-Bibeau L.B., Medura C., Tompkins C., Hughes S., Santiana M., Faghri F., Nalls M.A., Vitale D., Ballard S., Qi Y.A., Ramos D.M., Anderson K.M., Stadler J., Narayan P., Papademetriou J., Reilly L., Nelson M.P., Aggarwal S., Rosen L.U., Kirwan P., Pisupati V., Coon S.L., Scholz S.W., Priebe T., Ottl M., Dong J., Meijer M., Janssen L.J.M., Lourenco V.S., van der Kant R., Crusius D., Paquet D., Raulin A.-C., Bu G.-J., Held A., Wainger B.J., Gabriele R.M.C., Casey J.M., Wray S., Abu-Bonsrah K.D., Parish C.L., Beccari M.S., Cleveland D.W., Li E., Rose I.V.L., Kampmann M., Calatayud Aristoy C., Verstreken P., Heinrich L., Chen M.Y., Schule B., Dou D., Holzbaur E.L.F., Zanellati M.C., Basundra R., Deshmukh M., Cohen S., Khanna R., Raman M., Nevin Z.S., Matia M., Van Lent J., Timmerman V., Conklin B.R., Chase K.J., Zhang K., Funes S., Bosco D.A., Erlebach L., Welzer M., Kronenberg-Versteeg D., Lyu G.-C., Arenas E., Coccia E., Sarrafha L., Ahfeldt T., Marioni J.C., Skarnes W.C., Cookson M.R., Ward M.E., Merkle F.T.
A reference human induced pluripotent stem cell line for large-scale collaborative studies.
Cell Stem Cell 29:1685-1702.e22(2022)

Cross-references
Cell line databases/resources hPSCreg; WTSIi018-B-1
SKIP; SKIP002606
Biological sample resources BioSamples; SAMEA7996638
Encyclopedic resources Wikidata; Q54890432
Entry history
Entry creation23-Feb-2016
Last entry update29-Jun-2023
Version number11