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Cellosaurus CRTDi010-A (CVCL_C1P7)

[Text version]
Cell line name CRTDi010-A
Accession CVCL_C1P7
Resource Identification Initiative To cite this cell line use: CRTDi010-A (RRID:CVCL_C1P7)
Comments From: Center for Regenerative Therapies Dresden (CRTD); Dresden; Germany.
Population: Caucasian.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 15925; SAMHD1; Simple; p.Arg164Ter (c.490C>T); ClinVar=VCV000004069; Zygosity=Homozygous (from autologous cell line CRTDi010-B).
Disease Aicardi-Goutieres syndrome 5 (NCIt: C168564)
Aicardi-Goutieres syndrome (ORDO: Orphanet_51)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_C4SB ! CRTDi010-B
Sex of cell Male
Age at sampling 5Y
Category Induced pluripotent stem cell
Cross-references
Cell line databases/resources hPSCreg; CRTDi010-A
Biological sample resources BioSamples; SAMEA13155327
Encyclopedic resources Wikidata; Q114311276
Entry history
Entry creation22-Sep-2022
Last entry update29-Jun-2023
Version number4