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Cellosaurus DHMCi005-A (CVCL_WG65)

[Text version]

Cell line name DHMCi005-A
Synonyms SCYL1_1B_IPS
Accession CVCL_WG65
Resource Identification Initiative To cite this cell line use: DHMCi005-A (RRID:CVCL_WG65)
Comments From: Dietmar Hopp Metabolic Center, Center for Child and Adolescent Medicine Heidelberg; Heidelberg; Germany.
Population: Caucasian.
Derived from sampling site: Cell type=Fibroblast.
Sequence variations
Disease CALFAN syndrome (NCIt: C159655)
Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome (ORDO: Orphanet_466794)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 2Y
Category Induced pluripotent stem cell
Publications

PubMed=30959346; DOI=10.1016/j.scr.2019.101428
Lenz D., Staufner C., Wachter S., Hagedorn M., Ebersold J., Gohring G., Kolker S., Hoffmann G.F., Jung-Klawitter S.
Generation of an induced pluripotent stem cell (iPSC) line, DHMCi005-A, from a patient with CALFAN syndrome due to mutations in SCYL1.
Stem Cell Res. 37:101428-101428(2019)

Cross-references
Cell line databases/resources hPSCreg; DHMCi005-A
Encyclopedic resources Wikidata; Q93527342
Entry history
Entry creation24-May-2019
Last entry update16-Dec-2021
Version number6