Cellosaurus logo
expasy logo

Cellosaurus ICNDXHi001-A (CVCL_B5QS)

[Text][XML][JSON]
Cell line name ICNDXHi001-A
Accession CVCL_B5QS
Resource Identification Initiative To cite this cell line use: ICNDXHi001-A (RRID:CVCL_B5QS)
Comments From: Innovation Center for Neurological Disorders, Xuanwu Hospital, National Clinical Research Center for Geriatric Diseases, Capital Medical University; Beijing; China.
Population: Chinese; Han.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:6893; MAPT; Simple; p.Leu658Val (c.1972C>G) (p.Leu266Val, c.796C>G or p.Leu583Val, c.1747C>G); ClinVar=VCV000014266; Zygosity=Heterozygous (PubMed=34995843).
Disease Frontotemporal dementia (NCIt: C84719)
Behavioral variant of frontotemporal dementia (ORDO: Orphanet_275864)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 35Y
Category Induced pluripotent stem cell
Publications

PubMed=34995843; DOI=10.1016/j.scr.2022.102654
Hui-Min Cai, Ya-Na Pang, Long-Fei Jia;
Generation of an induced pluripotent stem cell line (ICNDXHi001-A) from a patient with frontotemporal dementia carrying a heterozygous mutation c.796C > G (p.L266V) in MAPT.
Stem Cell Res. 59:102654-102654(2022)

Cross-references
Cell line databases/resources hPSCreg; ICNDXHi001-A
Biological sample resources BioSamples; SAMEA10146948
Encyclopedic resources Wikidata; Q111733477
Entry history
Entry creation17-Mar-2022
Last entry update19-Dec-2024
Version number6