: 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.
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 / Rotundo, Giovannina; Turco, Elisa Maria; Ruotolo, Giorgia; Torrente, Isabella; Candido, Ornella; Lopez, Gianluca; Ferrari, Daniela; Caputi, Caterina; Mastrangelo, Mario; Pisani, Francesco; Gelati, Maurizio; Guarnieri, Vito; Vescovi, Angelo Luigi; Rosati, Jessica. - In: STEM CELL RESEARCH. - ISSN 1876-7753. - 67:(2023), p. 103023. [10.1016/j.scr.2023.103023]
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
Rotundo, Giovannina;Turco, Elisa Maria;Ruotolo, Giorgia;Torrente, Isabella;Lopez, Gianluca;Ferrari, Daniela;Caputi, Caterina;Mastrangelo, Mario;Pisani, Francesco;Guarnieri, Vito;Rosati, Jessica
2023
Abstract
: 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.| File | Dimensione | Formato | |
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Note: Rotundo_Generation of an induced pluripotent stem cell line_2023
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