ID   C9-3B
AC   CVCL_ZJ42
DR   Wikidata; Q98125605
RX   PubMed=33837088;
CC   Sequence variation: Mutation; HGNC; HGNC:28337; C9orf72; Repeat_expansion; c.-45+163GGGGCC[>24] (GGGGCC repeat expansion); ClinVar=VCV000031151; Zygosity=Unspecified (PubMed=33837088).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C168756; Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
DI   ORDO; Orphanet_275872; Frontotemporal dementia with motor neuron disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   57Y
CA   Induced pluripotent stem cell
DT   Created: 02-07-20; Last updated: 10-04-25; Version: 9
//
RX   PubMed=33837088; DOI=10.1126/sciadv.abg3013; PMCID=PMC8034861;
RA   Fumagalli L., Young F.L., Boeynaems S., De Decker M., Mehta A.R.,
RA   Swijsen A., Fazal R., Guo W.-T., Moisse M., Beckers J., Dedeene L.,
RA   Selvaraj B.T., Vandoorne T., Madan V., van Blitterswijk M.,
RA   Raitcheva D., McCampbell A., Poesen K., Gitler A.D., Koch P.,
RA   Vanden Berghe P., Thal D.R., Verfaillie C.M., Chandran S.,
RA   Van Den Bosch L., Bullock S.L., Van Damme P.;
RT   "C9orf72-derived arginine-containing dipeptide repeats associate with
RT   axonal transport machinery and impede microtubule-based motility.";
RL   Sci. Adv. 7:eabg3013.1-eabg3013.21(2021).
//