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Cellosaurus OGHFUi001-A-1 (CVCL_C0CK)

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Cell line name OGHFUi001-A-1
Synonyms iPS84-1-R
Accession CVCL_C0CK
Resource Identification Initiative To cite this cell line use: OGHFUi001-A-1 (RRID:CVCL_C0CK)
Comments From: Obstetrics and Gynecology Hospital of Fudan University; Shanghai; China.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:18060; ARX; Simple_corrected; p.Arg330Leu (c.989G>T); Zygosity=Hemizygous; Note=By CRISPR/Cas9 (PubMed=35121198).
Disease Developmental and epileptic encephalopathy 1 (NCIt: C179866)
Early infantile epileptic encephalopathy (ORDO: Orphanet_1934)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_A8MU (OGHFUi001-A)
Sex of cell Male
Age at sampling 7Y
Category Induced pluripotent stem cell
Publications

PubMed=35121198; DOI=10.1016/j.scr.2022.102693
Xiao-Hui Gong, Zhang-Qian Zheng, Tong Yang, Hui-Ying Zheng, Xi-Rong Xiao, Nan Jia;
Generation of an isogenic gene-corrected iPSC line (OGHFUi001-A-1) from a type 1 early infantile epileptic encephalopathy (EIEE1) patient with a hemizygous R330L mutation in the ARX gene.
Stem Cell Res. 60:102693-102693(2022)

Cross-references
Cell line databases/resources hPSCreg; OGHFUi001-A-1
Encyclopedic resources Wikidata; Q114312630
Entry history
Entry creation23-Jun-2022
Last entry update19-Dec-2024
Version number5