Cellosaurus cell line iPSC R87C C8 (CVCL

Cross-references
Cell line name	iPSC R87C C8
Synonyms	Clone SP1C8
Accession	CVCL_C6NH
Resource Identification Initiative	To cite this cell line use: iPSC R87C C8 (RRID:CVCL_C6NH)
Comments	From: Stem Cell Basic Biology Laboratory, Instituto Carlos Chagas, Fiocruz; Curitiba; Brazil. Derived from site: In situ; Urine; UBERON=UBERON_0001088.
Sequence variations	Mutation; HGNC; HGNC:13760; CYFIP2; Simple; p.Arg87Cys (c.259C>T); ClinVar=VCV000430807; Zygosity=Heterozygous (PubMed=37646972).
Disease	Developmental and epileptic encephalopathy 65 (NCIt: C201518) Non-specific early-onset epileptic encephalopathy (ORDO: Orphanet_442835)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	3Y
Category	Induced pluripotent stem cell
Publications	PubMed=37646972; DOI=10.1007/s13577-023-00978-4 Silva I.L.Z., Gomes-Junior R., da Silva E.B., Vaz I.M., Jamur V.R., de Freitas Souza B.S., Shigunov P. Generation of an induced pluripotent stem cell line from a patient with epileptic encephalopathy caused by the CYFIP2 R87C variant. Hum. Cell 36:2237-2246(2023)
Encyclopedic resources	Wikidata; Q123032738
Entry history
Entry creation	05-Oct-2023
Last entry update	19-Dec-2024
Version number	4