ID   SCTCi035-A
AC   CVCL_D6S6
SY   iPS22-00044
DR   BioSamples; SAMEA114764214
DR   hPSCreg; SCTCi035-A
RX   PubMed=38739972;
CC   From: Radboudumc Stem Cell Technology Center; Nijmegen; Netherlands.
CC   Population: Caucasian; Dutch.
CC   Sequence variation: Mutation; HGNC; 25412; SGIP1; Simple; c.74+1G>A; dbSNP=rs1315026372; Zygosity=Homozygous; Note=Splice donor mutation (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   25Y
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).
//