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Cellosaurus CRTDi008-A (CVCL_C1P4)

[Text version]
Cell line name CRTDi008-A
Accession CVCL_C1P4
Resource Identification Initiative To cite this cell line use: CRTDi008-A (RRID:CVCL_C1P4)
Comments From: Center for Regenerative Therapies Dresden (CRTD); Dresden; Germany.
Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:15925; SAMHD1; Simple; p.Arg290His (c.869G>A); ClinVar=VCV002501214; Zygosity=Heterozygous (from autologous cell line CRTDi008-B).
  • Mutation; HGNC; HGNC:15925; SAMHD1; Simple; p.Gln548Ter (c.1642C>T); ClinVar=VCV000004071; Zygosity=Heterozygous (from autologous cell line CRTDi008-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_C4SC ! CRTDi008-B
Sex of cell Male
Age at sampling 12Y
Category Induced pluripotent stem cell
Cross-references
Cell line databases/resources hPSCreg; CRTDi008-A
Biological sample resources BioSamples; SAMEA13127436
Encyclopedic resources Wikidata; Q114311273
Entry history
Entry creation22-Sep-2022
Last entry update19-Dec-2024
Version number5