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Cellosaurus DHMCi004-A (CVCL_VS00)

[Text version]

Cell line name DHMCi004-A
Synonyms NBAS_2A_IPS
Accession CVCL_VS00
Resource Identification Initiative To cite this cell line use: DHMCi004-A (RRID:CVCL_VS00)
Comments From: Dietmar Hopp Metabolic Center, Center for Child and Adolescent Medicine Heidelberg; Heidelberg; Germany.
Sequence variations Homozygous for NBAS p.Leu903Arg (c.2708T>G) (PubMed=30772683).
Disease Infantile liver failure syndrome 2 (NCIt: C158135)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 2Y
Category Induced pluripotent stem cell

PubMed=30772683; DOI=10.1016/j.scr.2019.101398
Lenz D., Staufner C., Wachter S., Hagedorn M., Ebersold J., Gohring G., Kolker S., Hoffmann G.F., Jung-Klawitter S.
Generation of an iPSC line from a patient with infantile liver failure syndrome 2 due to mutations in NBAS: DHMCi004-A.
Stem Cell Res. 35:101398-101398(2019)

Cell line databases/resources hPSCreg; DHMCi004-A
Entry history
Entry creation25-Feb-2019
Last entry updated24-May-2019
Version number2