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Cellosaurus HIHDNEi001-A (CVCL_UD88)

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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
Niklas Schwarz, Betul Uysal, Filip Rosa, Heidi Loffler, Ulrike A. Mau-Holzmann, Stefan Liebau, Holger Lerche;
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)

Cross-references
Cell line databases/resources hPSCreg; HIHDNEi001-A
Encyclopedic resources Wikidata; Q94208325
Entry history
Entry creation13-Nov-2018
Last entry update19-Dec-2024
Version number9