Cellosaurus cell line HIHDNEi002-A (CVCL

Cross-references
Cell line name	HIHDNEi002-A
Synonyms	iPSC-KCNA2-P4
Accession	CVCL_WN13
Resource Identification Initiative	To cite this cell line use: HIHDNEi002-A (RRID:CVCL_WN13)
Comments	From: Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tubingen; Tubingen; Germany. Population: Caucasian; German. 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.Arg297Gln (c.890G>A); ClinVar=VCV000190328; Zygosity=Heterozygous (PubMed=31075689).
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	30Y
Category	Induced pluripotent stem cell
Publications	PubMed=31075689; DOI=10.1016/j.scr.2019.101445 Niklas Schwarz, Betul Uysal, Filip Rosa, Heidi Loffler, Ulrike A. Mau-Holzmann, Stefan Liebau, Holger Lerche; Establishment of a human induced pluripotent stem cell (iPSC) line (HIHDNEi002-A) from a patient with developmental and epileptic encephalopathy carrying a KCNA2 (p.Arg297Gln) mutation. Stem Cell Res. 37:101445-101445(2019)
Cell line databases/resources	hPSCreg; HIHDNEi002-A
Encyclopedic resources	Wikidata; Q94208329
Entry history
Entry creation	24-May-2019
Last entry update	19-Dec-2024
Version number	9