ID   SCTCi034-A
AC   CVCL_D6S5
SY   iPS21-00085
DR   BioSamples; SAMEA114761061
DR   hPSCreg; SCTCi034-A
RX   PubMed=38739972;
CC   From: Radboudumc Stem Cell Technology Center; Nijmegen; Netherlands.
CC   Population: Turkish.
CC   Sequence variation: Mutation; HGNC; 25412; SGIP1; Simple; c.764dupA; Zygosity=Homozygous (PubMed=38739972).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C97250; Intellectual disability
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   29Y
CA   Induced pluripotent stem cell
DT   Created: 10-09-24; Last updated: 10-09-24; Version: 1
//
RX   PubMed=38739972; DOI=10.1016/j.scr.2024.103442;
RA   Dillen L., Fatima N., Hommersom M.P., Cepni E., Fatima F.,
RA   van Beusekom E., Albert S., van Hagen J.M., de Vries B.B.A.,
RA   Khan A.A., de Brouwer A.P.M., van Bokhoven H.;
RT   "Generation of induced pluripotent stem cell lines from two unrelated
RT   patients affected by intellectual disability carrying homozygous
RT   variants in SGIP1.";
RL   Stem Cell Res. 77:103442-103442(2024).
//