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Cellosaurus CRTDi008-B (CVCL_C4SC)

[Text version]
Cell line name CRTDi008-B
Synonyms AGS5_R290H/Q548X
Accession CVCL_C4SC
Resource Identification Initiative To cite this cell line use: CRTDi008-B (RRID:CVCL_C4SC)
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; 15925; SAMHD1; Simple; p.Arg290His (c.869G>A); ClinVar=VCV002501214; Zygosity=Heterozygous (PubMed=36115319).
  • Mutation; HGNC; 15925; SAMHD1; Simple; p.Gln548Ter (c.1642C>T); ClinVar=VCV000004071; Zygosity=Heterozygous (PubMed=36115319).
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_C1P4 ! CRTDi008-A
Sex of cell Male
Age at sampling 12Y
Category Induced pluripotent stem cell
Publications

PubMed=36115319; DOI=10.1016/j.scr.2022.102912
Hanchen V., Kretschmer S., Wolf C., Engel K., Khattak S., Neumann K., Lee-Kirsch M.A.
Generation of induced pluripotent stem cell lines from three patients with Aicardi-Goutieres syndrome type 5 due to biallelic SAMDH1 mutations.
Stem Cell Res. 64:102912-102912(2022)

Cross-references
Cell line databases/resources hPSCreg; CRTDi008-B
Biological sample resources BioSamples; SAMEA13127475
Encyclopedic resources Wikidata; Q116048796
Entry history
Entry creation15-Dec-2022
Last entry update29-Jun-2023
Version number3