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Alsalloum, Almaqdad; Asaad, Walaa; Krupinova, Julia; Kegeles, Evgenii; Sirotkina, Polina; Panova, Alexandra; Mityaeva, Olga; Volchkov, Pavel
Stem cell research, March 2024, 2024-Mar, 2024-03-00, 20240301, 2024-03-01, Letnik: 75Journal Article
•A line of induced pluripotent stem cells was created from a patient with a mutation in the CDC73 gene.•The mutation is associated with a rare but aggressive and life-threatening parathyroid carcinoma (PC).•The generated cell line provides an all-inclusive human genetic model to study the mechanism of CDC73-associated PHPT. CDC73-related disorders are inherited in an autosomal dominant manner. An individual with a CDC73-related disorder may have inherited the disorder from an affected parent or developed it as the result of a de novo pathogenic variant of CDC73. The iPSC line was obtained by reprogramming the PBMCs of a patient with a heterozygous type mutation of the CDC73 gene. This cell line could be useful to scrutinize and study the development of CDC73-associated parathyroid carcinoma.
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JCR | SNIP | JCR | SNIP | JCR | SNIP | JCR | SNIP |
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in: SICRIS
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