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Cellosaurus PEIi002-A (CVCL_YC48)

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Cell line name PEIi002-A
Synonyms AGS-A
Accession CVCL_YC48
Resource Identification Initiative To cite this cell line use: PEIi002-A (RRID:CVCL_YC48)
Comments From: Paul Ehrlich Institute; Langen; Germany.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:15925; SAMHD1; Unexplicit; Ex14-15del; Zygosity=Homozygous (PubMed=32062129).
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_YC49 ! PEIi002-B
CVCL_YC50 ! PEIi002-C
Sex of cell Male
Age at sampling Age unspecified
Category Induced pluripotent stem cell
Publications

PubMed=32062129; DOI=10.1016/j.scr.2019.101697
Nina V. Fuchs, Maximilian Schieck, Michaela Neuenkirch, Christiane Tondera, Heike Schmitz, Lena Wendeburg, Doris Steinemann, Christiane Elpers, Frank Rutsch, Renate Konig;
Generation of three induced pluripotent cell lines (iPSCs) from an Aicardi-Goutieres syndrome (AGS) patient harboring a deletion in the genomic locus of the sterile alpha motif and HD domain containing protein 1 (SAMHD1).
Stem Cell Res. 43:101697-101697(2020)

Cross-references
Cell line databases/resources hPSCreg; PEIi002-A
Encyclopedic resources Wikidata; Q98128535
Entry history
Entry creation19-Dec-2019
Last entry update19-Dec-2024
Version number7