ID   CSSi013-A
SY   CSSi013-A (9360); CSSi013-A cl.D
DR   BioSamples; SAMEA14080160
DR   hPSCreg; CSSi013-A
DR   Wikidata; Q112929419
RX   PubMed=35714448;
CC   From: Fondazione Casa Sollievo della Sofferenza IRCCS; San Giovanni Rotondo; Italy.
CC   Population: Caucasian; Italian.
CC   Sequence variation: Mutation; HGNC; 11571; TARDBP; Simple; p.Gly376Asp (c.1127G>A); Zygosity=Heterozygous (PubMed=35714448).
CC   Donor information: At sampling donor was not affected with amyotrophic lateral sclerosis.
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   34Y
CA   Induced pluripotent stem cell
DT   Created: 23-06-22; Last updated: 29-06-23; Version: 5
RX   PubMed=35714448; DOI=10.1016/j.scr.2022.102835;
RA   D'Anzi A., Perciballi E., Ruotolo G., Ferrari D., Notaro A.,
RA   Lombardi I., Gelati M., Frezza K., Bernardini L., Torrente I.,
RA   De Luca A., La Bella V., Vescovi A.L., Rosati J.;
RT   "Production of CSSi013-A (9360) iPSC line from an asymptomatic subject
RT   carrying an heterozygous mutation in TDP-43 protein.";
RL   Stem Cell Res. 63:102835-102835(2022).