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Cellosaurus PEIi002-A (CVCL_YC48)

[Text version]
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
Fuchs N.V., Schieck M., Neuenkirch M., Tondera C., Schmitz H., Wendeburg L., Steinemann D., Elpers C., Rutsch F., Konig R.
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