ID   CSSi012-A
AC   CVCL_A8KQ
SY   CSSi012-A (7672); 7672; CSS012-A; GAFU cl.A
DR   BioSamples; SAMEA8427021
DR   hPSCreg; CSSi012-A
DR   Wikidata; Q108820087
RX   PubMed=34087986;
CC   From: Fondazione Casa Sollievo della Sofferenza IRCCS; San Giovanni Rotondo; Italy.
CC   Population: Caucasian; Italian.
CC   Sequence variation: Mutation; HGNC; HGNC:11571; TARDBP; Simple; p.Gly376Asp (c.1127G>A); Zygosity=Heterozygous (PubMed=34087986).
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   Male
AG   38Y
CA   Induced pluripotent stem cell
DT   Created: 23-09-21; Last updated: 19-12-24; Version: 6
//
RX   PubMed=34087986; DOI=10.1016/j.scr.2021.102356;
RA   D'Anzi A., Altieri F., Perciballi E., Ferrari D., Torres B.,
RA   Bernardini L., Lattante S., Sabatelli M., Vescovi A.L., Rosati J.D.;
RT   "Generation of an induced pluripotent stem cell line (CSS012-A (7672))
RT   carrying the p.G376D heterozygous mutation in the TARDBP protein.";
RL   Stem Cell Res. 53:102356-102356(2021).
//