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Cellosaurus HIHDNEi003-A (CVCL_WN14)

[Text version]

Cell line name HIHDNEi003-A
Accession CVCL_WN14
Resource Identification Initiative To cite this cell line use: HIHDNEi003-A (RRID:CVCL_WN14)
Comments From: Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tubingen; Tubingen; Germany.
Population: Caucasian.
Derived from sampling site: Skin; dermis.
Sequence variations Heterozygous for KCNA2 p.Thr374Ala (c.1120A>G) (PubMed=31465893).
Disease Early infantile epileptic encephalopathy 32 (NCIt: C155998)
Undetermined early-onset epileptic encephalopathy (ORDO: Orphanet_442835)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 6M
Category Induced pluripotent stem cell
Publications

PubMed=31465893; DOI=10.1016/j.scr.2019.101543
Uysal B., Loffler H., Rosa F., Lerche H., Schwarz N.
Generation of an induced pluripotent stem cell (iPSC) line (HIHDNEi003-A) from a patient with developmental and epileptic encephalopathy carrying a KCNA2 (p.Thr374Ala) mutation.
Stem Cell Res. 40:101543-101543(2019)

Cross-references
Cell line databases/resources hPSCreg; HIHDNEi003-A
Other Wikidata; Q94208333
Entry history
Entry creation24-May-2019
Last entry update02-Jul-2020
Version number4