ID   C9-2B
AC   CVCL_ZJ41
DR   Wikidata; Q98125604
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_803; Amyotrophic lateral sclerosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   57Y
CA   Induced pluripotent stem cell
DT   Created: 02-07-20; Last updated: 19-12-24; Version: 8
//
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).
//