ID   UCSCi002-A
AC   CVCL_C0JS
SY   LIF-1989
DR   BioSamples; SAMEA10774218
DR   hPSCreg; UCSCi002-A
DR   Wikidata; Q112930507
RX   PubMed=35667216;
CC   From: Universita Cattolica del Sacro Cuore, Fondazione Policlinico Universitario A. Gemelli; Rome; Italy.
CC   Population: Caucasian; Italian.
CC   Sequence variation: Mutation; HGNC; 11571; TARDBP; Simple; p.Ser332Asn (c.995G>A); ClinVar=VCV001448395; Zygosity=Heterozygous (PubMed=35667216).
CC   Omics: Array-based CGH.
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
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   Female
AG   65Y
CA   Induced pluripotent stem cell
DT   Created: 23-06-22; Last updated: 29-06-23; Version: 5
//
RX   PubMed=35667216; DOI=10.1016/j.scr.2022.102825;
RA   Martello F., Lattante S., Doronzio P.N., Conte A., Bisogni G.,
RA   Orteschi D., Luigetti M., Marrucci M.A., Zollino M., Sabatelli M.,
RA   Marangi G.;
RT   "Generation of an induced pluripotent stem cell line (UCSCi002-A) from
RT   a patient with a variant in TARDBP gene associated with familial
RT   amyotrophic lateral sclerosis and frontotemporal dementia.";
RL   Stem Cell Res. 62:102825-102825(2022).
//