Cellosaurus cell line HIHDNEi001-A (CVCL

Cross-references
Cell line name	HIHDNEi001-A
Synonyms	iPSC-KCNA2-P3
Accession	CVCL_UD88
Resource Identification Initiative	To cite this cell line use: HIHDNEi001-A (RRID:CVCL_UD88)
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.Leu328Val (c.982T>G); Zygosity=Heterozygous (PubMed=30292882).
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	13Y
Category	Induced pluripotent stem cell
Publications	PubMed=30292882; DOI=10.1016/j.scr.2018.08.019 Schwarz N., Uysal B., Rosa F., Loffler H., Mau-Holzmann U.A., Liebau S., Lerche H. Generation of an induced pluripotent stem cell (iPSC) line from a patient with developmental and epileptic encephalopathy carrying a KCNA2 (p.Leu328Val) mutation. Stem Cell Res. 33:6-9(2018)
Cell line databases/resources	hPSCreg; HIHDNEi001-A
Encyclopedic resources	Wikidata; Q94208325
Entry history
Entry creation	13-Nov-2018
Last entry update	19-Dec-2024
Version number	9