ID   CSSi009-A
AC   CVCL_XI71
SY   GDB1307_Z2#1
DR   BioSamples; SAMEA8325239
DR   hPSCreg; CSSi009-A
DR   Wikidata; Q93459738
RX   PubMed=31479876;
CC   From: Fondazione Casa Sollievo della Sofferenza IRCCS; San Giovanni Rotondo; Italy.
CC   Population: Asian.
CC   Sequence variation: Mutation; HGNC; 4401; GNB5; Simple; p.Glu88Argfs*8 (c.262delG) (p.Glu46Argfs*8, c.136delG); ClinVar=VCV001210290; Zygosity=Homozygous (PubMed=31479876).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C164154; Intellectual developmental disorder with cardiac arrhythmia
DI   ORDO; Orphanet_542306; GNB5-related intellectual disability-cardiac arrhythmia syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   10Y
CA   Induced pluripotent stem cell
DT   Created: 19-12-19; Last updated: 29-06-23; Version: 9
//
RX   PubMed=31479876; DOI=10.1016/j.scr.2019.101547;
RA   Malerba N., Benzoni P., Squeo G.M., Milanesi R., Giannetti F.,
RA   Sadleir L.G., Poke G., Augello B., Croce A.I., Barbuti A., Merla G.;
RT   "Generation of the induced human pluripotent stem cell lines CSSi009-A
RT   from a patient with a GNB5 pathogenic variant, and CSSi010-A from a
RT   CRISPR/Cas9 engineered GNB5 knock-out human cell line.";
RL   Stem Cell Res. 40:101547-101547(2019).
//