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Generation of an induced pluripotent stem cell line CSSi015-A (9553), carrying a point mutation c.2915C > T in the human calcium sensing receptor (CasR) gene

2023; Elsevier BV; Volume: 67; Linguagem: Inglês

10.1016/j.scr.2023.103023

1876-7753

Giovannina Rotundo, Elisa Maria Turco, Giorgia Ruotolo, Isabella Torrente, Ornella Candido, Gianluca Lopez, Daniela Ferrari, Caterina Caputi, Mario Mastrangelo, Francesco Pisani, Maurizio Gelati, Vito Guarnieri, Angelo L. Vescovi, Jessica Rosati,

Erythrocyte Function and Pathophysiology

Familial Hypocalciuric Hypercalcemia (FHH1) is a rare autosomal dominant disease with low penetrance, caused by inactivating mutations of the calcium-sensing receptor (CaSR) gene, characterized by significant hypercalcemia, inappropriately normal serum PTH levels and a low urinary calcium level. Human induced pluripotent stem cells (hiPSCs) from a patient carrying a previously identified heterozygous mutation, a p.T972M amino acid substitution in cytoplasmic tail of CasR, were produced using a virus, xeno-free and non-integrative protocol.