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; 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: 29-06-23; Version: 4
//
RX   PubMed=36638628; DOI=10.1016/j.scr.2023.103023;
RA   Rotundo G., Turco E.M., Ruotolo G., Torrente I., Candido O., Lopez G.,
RA   Ferrari D., Caputi C., Mastrangelo M., Pisani F., Gelati M.,
RA   Guarnieri V., Vescovi A.L., Rosati J.;
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).
//