ID   CSSi020-A
AC   CVCL_E3U3
SY   CSSi020-A (14437); 14437; SMSdel1 cl Q
DR   BioSamples; SAMEA115788086
DR   hPSCreg; CSSi020-A
RX   PubMed=39260069;
CC   From: Fondazione Casa Sollievo della Sofferenza IRCCS; San Giovanni Rotondo; Italy.
CC   Population: Caucasian.
CC   Sequence variation: Gene deletion; HGNC; HGNC:9834; RAI1; Zygosity=Heterozygous (PubMed=39260069).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
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   17Y
CA   Induced pluripotent stem cell
DT   Created: 19-12-24; Last updated: 19-12-24; Version: 1
//
RX   PubMed=39260069; DOI=10.1016/j.scr.2024.103544;
RA   Giovenale A.M.G., Turco E.M., Mazzoni M., Ferrone I., Torres B.,
RA   Bernardini L., Vulcano E., Ferrari D., Onesimo R., D'Arrigo S.,
RA   Zampino G., Pennuto M., De Luca A., Vescovi A.L., Rosati J.D.;
RT   "Generation of the CSSi020-A (14437) iPSC line from a patient carrying
RT   a copy number variation (CNV) in the 17p11.2 chromosome region.";
RL   Stem Cell Res. 81:103544-103544(2024).
//