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Cellosaurus WTSIi018-B-16 (CVCL_D6KU)

[Text version]
Cell line name WTSIi018-B-16
Synonyms KOLF2-C1 ATM A3054V; PEIi019-A-16
Accession CVCL_D6KU
Resource Identification Initiative To cite this cell line use: WTSIi018-B-16 (RRID:CVCL_D6KU)
Comments From: Paul Ehrlich Institute; Langen; Germany.
Population: Caucasian; British.
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 (from parent cell line).
  • Mutation; HGNC; HGNC:795; ATM; Simple_edited; p.Ala3054Val (c.9161C>T); ClinVar=VCV000479082; Zygosity=Homozygous; Note=By CRISPR/Cas9 (PubMed=37976651).
  • Mutation; HGNC; HGNC:2201; COL3A1; Simple; c.3526-1G>A; Zygosity=Heterozygous; Note=Splice acceptor mutation (from parent cell line).
  • Mutation; HGNC; HGNC:2201; COL3A1; Simple; p.Gly1176Ser (c.3526G>A); Zygosity=Heterozygous (from parent cell line).
Disease Ataxia telangiectasia syndrome (NCIt: C2887)
Ataxia telangiectasia (ORDO: Orphanet_100)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_9S58 (HPSI0114i-kolf_2-C1)
Sex of cell Male
Age at sampling 55-59Y
Category Induced pluripotent stem cell
Publications

PubMed=37976651; DOI=10.1016/j.scr.2023.103247
Nurieva W., Ivanova E., Chehab S., Singh P., Reichlmeir M., Szuhai K., Auburger G.W.J., Skarnes W.C., Ivics Z.
Generation of four gene-edited human induced pluripotent stem cell lines with mutations in the ATM gene to model ataxia-telangiectasia.
Stem Cell Res. 73:103247-103247(2023)

Cross-references
Cell line databases/resources hPSCreg; WTSIi018-B-16
Biological sample resources BioSamples; SAMEA115039275
Encyclopedic resources Wikidata; Q127384720
Entry history
Entry creation02-May-2024
Last entry update19-Dec-2024
Version number3