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Cellosaurus SCTCi034-A (CVCL_D6S5)

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Cell line name SCTCi034-A
Synonyms iPS21-00085
Accession CVCL_D6S5
Resource Identification Initiative To cite this cell line use: SCTCi034-A (RRID:CVCL_D6S5)
Comments From: Radboudumc Stem Cell Technology Center; Nijmegen; Netherlands.
Population: Turkish.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:25412; SGIP1; Simple; c.764dupA; Zygosity=Homozygous (PubMed=38739972).
Disease Intellectual disability (NCIt: C97250)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 29Y
Category Induced pluripotent stem cell
Publications

PubMed=38739972; DOI=10.1016/j.scr.2024.103442
Lieke Dillen, Neelam Fatima, Marina P. Hommersom, Ece Cepni, Fareeha Fatima, Ellen van Beusekom, Silvia Albert, Johanna M. van Hagen, Bert B.A. de Vries, Asma Ali Khan, Arjan P.M. de Brouwer, Hans van Bokhoven;
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; SCTCi034-A
Biological sample resources BioSamples; SAMEA114761061
Entry history
Entry creation10-Sep-2024
Last entry update19-Dec-2024
Version number2