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Cellosaurus UKHGi003-A (CVCL_A1QI)

[Text version]
Cell line name UKHGi003-A
Synonyms PKE (C)
Accession CVCL_A1QI
Resource Identification Initiative To cite this cell line use: UKHGi003-A (RRID:CVCL_A1QI)
Comments From: Institute of Human Genetics, University Hospital Heidelberg; Heidelberg; Germany.
Population: Caucasian; German.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:14295; SHANK2; Unexplicit; 120 kb deletion; Zygosity=Unspecified; Note=De novo mutation (PubMed=33002717).
Disease Autism spectrum disorder (NCIt: C88412)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_A1QJ ! UKHGi003-B
Sex of cell Female
Age at sampling 7Y
Category Induced pluripotent stem cell
Publications

PubMed=33002717; DOI=10.1016/j.scr.2020.102004
Cristian F.-B., Koppel A., Janssen J.W.G., Utikal J.S., Rappold G.A., Berkel S.
Generation of two hiPSC lines from a patient with autism spectrum disorder harboring a 120 kb deletion in SHANK2 and two control lines from each parent.
Stem Cell Res. 49:102004-102004(2020)

Cross-references
Cell line databases/resources hPSCreg; UKHGi003-A
Biological sample resources BioSamples; SAMEA7390810
Encyclopedic resources Wikidata; Q102115067
Entry history
Entry creation29-Oct-2020
Last entry update19-Dec-2024
Version number8