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Publication stageIn Press Accepted Manuscript
(1) CRIPT causes a Rothmund-Thomson-like syndrome that is associated with developmental delay.
(2) Biallelic variants in CRIPT cause increased cellular senescence which is a shared cellular phenotype of CRIPT and RECQL4 deficiencies.
(3) In fibroblasts derived from individuals with pathogenic variants in CRIPT, mitotic progression and mitotic arrest induction are not compromised and the incidence of mitotic errors is not significantly increased.
(4) Fibroblasts from CRIPT and RECQL4 individuals show no or only very mild sensitivity to ionizing radiation, mitomycin C, hydroxyurea, etoposide, and potassium bromate compared to controls.