ID   CSSi015-A
AC   CVCL_C1PC
SY   CSSi015-A (9553); 9553; FC17; FC 17 cl D1
DR   BioSamples; SAMEA110061803
DR   hPSCreg; CSSi015-A
DR   Wikidata; Q114311287
RX   PubMed=36638628;
CC   From: Fondazione Casa Sollievo della Sofferenza IRCCS; San Giovanni Rotondo; Italy.
CC   Population: Caucasian; Italian.
CC   Sequence variation: Mutation; HGNC; HGNC:1514; CASR; Simple; p.Thr972Met (c.2915C>T); ClinVar=VCV000342802; Zygosity=Heterozygous (PubMed=36638628).
CC   Derived from site: In situ; Arm, skin, dermis; UBERON=UBERON_0002427+UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C123262; Familial hypocalciuric hypercalcemia
DI   ORDO; Orphanet_405; Familial hypocalciuric hypercalcemia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   38Y
CA   Induced pluripotent stem cell
DT   Created: 22-09-22; Last updated: 19-12-24; Version: 5
//
RX   PubMed=36638628; DOI=10.1016/j.scr.2023.103023;
RA   Rotundo, Giovannina
RA   Turco, Elisa Maria
RA   Ruotolo, Giorgia
RA   Torrente, Isabella
RA   Candido, Ornella
RA   Lopez, Gianluca
RA   Ferrari, Daniela
RA   Caputi, Caterina
RA   Mastrangelo, Mario
RA   Pisani, Francesco
RA   Gelati, Maurizio
RA   Guarnieri, Vito
RA   Vescovi, Angelo Luigi
RA   Rosati, Jessica Diana
RT   "Generation of an induced pluripotent stem cell line CSSi015-A (9553),
RT   carrying a point mutation c.2915C > T in the human calcium sensing
RT   receptor (CasR) gene.";
RL   Stem Cell Res. 67:103023-103023(2023).
//