ID   CSSi003-A
AC   CVCL_VD30
SY   CSSi003-A (2961); 2961; COL04 clE2
DR   BioSamples; SAMEA104621351
DR   hPSCreg; CSSi003-A
DR   SKIP; SKIP003154
DR   Wikidata; Q54814681
RX   PubMed=29494847;
CC   From: Fondazione Casa Sollievo della Sofferenza IRCCS; San Giovanni Rotondo; Italy.
CC   Population: Caucasian; Italian.
CC   Sequence variation: Mutation; HGNC; 9834; RAI1; Simple; p.Ser399Profs*40 (c.1194delC); Zygosity=Heterozygous (PubMed=29494847).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C75469; Smith-Magenis syndrome
DI   ORDO; Orphanet_819; Smith-Magenis syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   37Y
CA   Induced pluripotent stem cell
DT   Created: 14-05-18; Last updated: 29-06-23; Version: 10
//
RX   PubMed=29494847; DOI=10.1016/j.scr.2018.02.016;
RA   Altieri F., Turco E.M., Vinci E., Torres B., Ferrari D., De Jaco A.,
RA   Mazzoccoli G., Lamorte G., Nardone A., Della Monica M., Bernardini L.,
RA   Vescovi A.L., Rosati J.;
RT   "Production and characterization of CSSI003 (2961) human induced
RT   pluripotent stem cells (iPSCs) carrying a novel puntiform mutation in
RT   RAI1 gene, causative of Smith-Magenis syndrome.";
RL   Stem Cell Res. 28:153-156(2018).
//