Cellosaurus cell line HIHDNEi003-A (CVCL

Cross-references
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 site: In situ; Skin, dermis; UBERON=UBERON_0002067. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:6220; KCNA2; Simple; p.Thr374Ala (c.1120A>G); ClinVar=VCV000559647; Zygosity=Heterozygous (PubMed=31465893).
Disease	Developmental and epileptic encephalopathy 32 (NCIt: C155998) Non-specific 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)
Cell line databases/resources	hPSCreg; HIHDNEi003-A
Encyclopedic resources	Wikidata; Q94208333
Entry history
Entry creation	24-May-2019
Last entry update	19-Dec-2024
Version number	10