Generation of induced pluripotent stem cell line (MIPTi002-A) derived from a patient with a heterozygous type mutation in the CDC73 gene

• Published in: Stem cell research 2024-03, Vol.75, p.103311-103311, Article 103311
• Main Authors: Alsalloum, Almaqdad, Asaad, Walaa, Krupinova, Julia, Kegeles, Evgenii, Sirotkina, Polina, Panova, Alexandra, Mityaeva, Olga, Volchkov, Pavel
• Format: Article
• Language: English
• ISSN: 1873-5061; 1876-7753
• DOI: 10.1016/j.scr.2024.103311

•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.