ID   iPSC R87C C8
AC   CVCL_C6NH
SY   Clone SP1C8
DR   Wikidata; Q123032738
RX   PubMed=37646972;
CC   From: Stem Cell Basic Biology Laboratory, Instituto Carlos Chagas, Fiocruz; Curitiba; Brazil.
CC   Sequence variation: Mutation; HGNC; 13760; CYFIP2; Simple; p.Arg87Cys (c.259C>T); ClinVar=VCV000430807; Zygosity=Heterozygous (PubMed=37646972).
CC   Derived from site: In situ; Urine; UBERON=UBERON_0001088.
DI   NCIt; C201518; Developmental and epileptic encephalopathy 65
DI   ORDO; Orphanet_442835; Non-specific early-onset epileptic encephalopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   3Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 02-05-24; Version: 3
//
RX   PubMed=37646972; DOI=10.1007/s13577-023-00978-4;
RA   Silva I.L.Z., Gomes-Junior R., da Silva E.B., Vaz I.M., Jamur V.R.,
RA   de Freitas Souza B.S., Shigunov P.;
RT   "Generation of an induced pluripotent stem cell line from a patient
RT   with epileptic encephalopathy caused by the CYFIP2 R87C variant.";
RL   Hum. Cell 36:2237-2246(2023).
//