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Cellosaurus CRTDi009-A (CVCL_C1P5)

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Cell line name CRTDi009-A
Synonyms AGS5_H167Y
Accession CVCL_C1P5
Resource Identification Initiative To cite this cell line use: CRTDi009-A (RRID:CVCL_C1P5)
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.His167Tyr (c.499C>T); Zygosity=Homozygous (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_C1P6 ! CRTDi009-B
Sex of cell Female
Age at sampling 4Y
Category Induced pluripotent stem cell
Publications

PubMed=36115319; DOI=10.1016/j.scr.2022.102912
Vanessa Hanchen, Stefanie Kretschmer, Christine Wolf, Kerstin Engel, Shahryar Khattak, Katrin Neumann, Min Ae Lee-Kirsch;
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; CRTDi009-A
Biological sample resources BioSamples; SAMEA13152764
Encyclopedic resources Wikidata; Q114311274
Entry history
Entry creation22-Sep-2022
Last entry update19-Dec-2024
Version number5