Cellosaurus logo
expasy logo

Cellosaurus FDHSi005-A (CVCL_E4G7)

[Text][XML][JSON]
Cell line name FDHSi005-A
Synonyms FDH-iPS-IBM-GNE
Accession CVCL_E4G7
Resource Identification Initiative To cite this cell line use: FDHSi005-A (RRID:CVCL_E4G7)
Comments From: Huashan Hospital of Fudan University; Shanghai; China.
Population: Chinese; Han.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:23657; GNE; Simple; p.Arg129Ter (c.385C>T) (p.Arg160Ter, c.478C>T); ClinVar=VCV000370849; Zygosity=Heterozygous (PubMed=39303320).
  • Mutation; HGNC; HGNC:23657; GNE; Simple; c.862+870C>T; Zygosity=Heterozygous (PubMed=39303320).
Disease Nonaka myopathy (NCIt: C176900)
GNE myopathy (ORDO: Orphanet_602)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 28Y
Category Induced pluripotent stem cell
Publications

PubMed=39303320; DOI=10.1016/j.scr.2024.103562
Ke-Xin Jiao, Jia-Long Zhang, Ning-Ning Wang, Xin-Yu Gu, Xue-Chun Chang, Xing-Yu Xia, Bo-Chen Zhu, Ming-Shi Gao, Na-Chuan Cheng, Chong-Bo Zhao, Jian-Ying Xi, Wen-Hua Zhu;
Human induced pluripotent stem cell line (FDHSi005-A) derived from a patient with a deep intronic variant in the GNE gene.
Stem Cell Res. 81:103562-103562(2024)

Cross-references
Cell line databases/resources hPSCreg; FDHSi005-A
Biological sample resources BioSamples; SAMEA115920917
Entry history
Entry creation19-Dec-2024
Last entry update19-Dec-2024
Version number1