ID   HVRDi014-A
AC   CVCL_WS85
SY   TDP43-47d; TDP-43G298S
DR   BioSamples; SAMEA5574038
DR   hPSCreg; HVRDi014-A
DR   Wikidata; Q94310000
RX   PubMed=24507191;
CC   From: Harvard University; Boston; USA.
CC   Sequence variation: Mutation; HGNC; 11571; TARDBP; Simple; p.Gly298Ser (c.892G>A); ClinVar=VCV000005232; Zygosity=Heterozygous (PubMed=24507191).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C168752; Amyotrophic lateral sclerosis 10, with or without frontotemporal dementia
DI   ORDO; Orphanet_803; Amyotrophic lateral sclerosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   43Y
CA   Induced pluripotent stem cell
DT   Created: 05-07-19; Last updated: 29-06-23; Version: 8
//
RX   PubMed=24507191; DOI=10.1016/j.neuron.2013.12.018;
RA   Alami N.H., Smith R.B., Carrasco M.A., Williams L.A., Winborn C.S.,
RA   Han S.S.W., Kiskinis E., Winborn B., Freibaum B.D., Kanagaraj A.,
RA   Clare A.J., Badders N.M., Bilican B., Chaum E., Chandran S.,
RA   Shaw C.E., Eggan K.C., Maniatis T., Taylor J.P.;
RT   "Axonal transport of TDP-43 mRNA granules is impaired by ALS-causing
RT   mutations.";
RL   Neuron 81:536-543(2014).
//