ID   ICNDXHi001-A
AC   CVCL_B5QS
DR   BioSamples; SAMEA10146948
DR   hPSCreg; ICNDXHi001-A
DR   Wikidata; Q111733477
RX   PubMed=34995843;
CC   From: Innovation Center for Neurological Disorders, Xuanwu Hospital, National Clinical Research Center for Geriatric Diseases, Capital Medical University; Beijing; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; 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).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C84719; Frontotemporal dementia
DI   ORDO; Orphanet_275864; Behavioral variant of frontotemporal dementia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   35Y
CA   Induced pluripotent stem cell
DT   Created: 17-03-22; Last updated: 29-06-23; Version: 5
//
RX   PubMed=34995843; DOI=10.1016/j.scr.2022.102654;
RA   Cai H.-M., Pang Y.-N., Jia L.-F.;
RT   "Generation of an induced pluripotent stem cell line (ICNDXHi001-A)
RT   from a patient with frontotemporal dementia carrying a heterozygous
RT   mutation c.796C > G (p.L266V) in MAPT.";
RL   Stem Cell Res. 59:102654-102654(2022).
//