| Title: |
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 |
| Authors: |
Rotundo, G; Turco, EM; Ruotolo, G; Torrente, I; Candido, O; Lopez, G; Ferrari, D; Caputi, C; Mastrangelo, M; Pisani, F; Gelati, M; Guarnieri, V; Vescovi, AL; Rosati, J |
| Contributors: |
Rotundo, G; Turco, E; Ruotolo, G; Torrente, I; Candido, O; Lopez, G; Ferrari, D; Caputi, C; Mastrangelo, M; Pisani, F; Gelati, M; Guarnieri, V; Vescovi, A; Rosati, J |
| Publisher Information: |
Elsevier BV; NL |
| Publication Year: |
2023 |
| Collection: |
Università degli Studi di Milano-Bicocca: BOA (Bicocca Open Archive) |
| Subject Terms: |
iPS; stem cells; reprograming; genetic diseases; Settore BIOS-10/A - Biologia cellulare e applicata |
| Description: |
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. |
| Document Type: |
article in journal/newspaper |
| File Description: |
STAMPA |
| Language: |
English |
| Relation: |
info:eu-repo/semantics/altIdentifier/pmid/36638628; info:eu-repo/semantics/altIdentifier/wos/WOS:001010859600001; volume:67; issue:March 2023; firstpage:1; lastpage:5; numberofpages:5; journal:STEM CELL RESEARCH; https://hdl.handle.net/10281/453900 |
| DOI: |
10.1016/j.scr.2023.103023 |
| Availability: |
https://hdl.handle.net/10281/453900; https://doi.org/10.1016/j.scr.2023.103023 |
| Rights: |
info:eu-repo/semantics/openAccess ; license:Creative Commons ; license uri:http://creativecommons.org/licenses/by-nc-nd/4.0/ |
| Accession Number: |
edsbas.6CFCBF8 |
| Database: |
BASE |