ID   UCSCi001-A
AC   CVCL_A8ZZ
SY   SII-1802; SII-1802 cl. R
DR   BioSamples; SAMEA9197919
DR   hPSCreg; UCSCi001-A
DR   Wikidata; Q108821426
RX   PubMed=34303285;
CC   From: Universita Cattolica del Sacro Cuore, Fondazione Policlinico Universitario A. Gemelli; Rome; Italy.
CC   Population: Caucasian; Italian.
CC   Sequence variation: Mutation; HGNC; 4010; FUS; Simple; p.Arg518Ile (c.1553G>T); Zygosity=Heterozygous (PubMed=34303285).
CC   Omics: Array-based CGH.
CC   Derived from site: In situ; Leg, skin, dermis; UBERON=UBERON_0001511+UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C168750; Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia
DI   ORDO; Orphanet_803; Amyotrophic lateral sclerosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   31Y
CA   Induced pluripotent stem cell
DT   Created: 23-09-21; Last updated: 29-06-23; Version: 6
//
RX   PubMed=34303285; DOI=10.1016/j.scr.2021.102461;
RA   Martello F., Lattante S., Doronzio P.N., Conte A., Bisogni G.,
RA   Orteschi D., Pirozzi F., Sabatelli M., Zollino M., Marangi G.;
RT   "Generation of an induced pluripotent stem cell line (UCSCi001-A) from
RT   a patient with early-onset amyotrophic lateral sclerosis carrying a
RT   FUS variant.";
RL   Stem Cell Res. 55:102461-102461(2021).
//