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Cellosaurus SCTCi035-A (CVCL_D6S6)

[Text version]
Cell line name SCTCi035-A
Synonyms iPS22-00044
Accession CVCL_D6S6
Resource Identification Initiative To cite this cell line use: SCTCi035-A (RRID:CVCL_D6S6)
Comments From: Radboudumc Stem Cell Technology Center; Nijmegen; Netherlands.
Population: Caucasian; Dutch.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 25412; SGIP1; Simple; c.74+1G>A; dbSNP=rs1315026372; Zygosity=Homozygous; Note=Splice donor mutation (PubMed=38739972).
Disease Intellectual disability (NCIt: C97250)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 25Y
Category Induced pluripotent stem cell
Publications

PubMed=38739972; DOI=10.1016/j.scr.2024.103442
Dillen L., Fatima N., Hommersom M.P., Cepni E., Fatima F., van Beusekom E., Albert S., van Hagen J.M., de Vries B.B.A., Khan A.A., de Brouwer A.P.M., van Bokhoven H.
Generation of induced pluripotent stem cell lines from two unrelated patients affected by intellectual disability carrying homozygous variants in SGIP1.
Stem Cell Res. 77:103442-103442(2024)

Cross-references
Cell line databases/resources hPSCreg; SCTCi035-A
Biological sample resources BioSamples; SAMEA114764214
Entry history
Entry creation10-Sep-2024
Last entry update10-Sep-2024
Version number1