ID   CSSi011-A
AC   CVCL_ZA85
DR   BioSamples; SAMEA7044786
DR   hPSCreg; CSSi011-A
DR   Wikidata; Q98125791
RX   PubMed=32739880;
CC   From: Fondazione Casa Sollievo della Sofferenza IRCCS; San Giovanni Rotondo; Italy.
CC   Population: Caucasian; Albanian.
CC   Sequence variation: Mutation; HGNC; 11179; SOD1; Simple; p.Leu145Phe (c.435G>C) (L144F); ClinVar=VCV000586637; Zygosity=Unspecified (PubMed=32739880).
CC   Derived from sampling site: Skin; dermis. Cell type=Fibroblast.
DI   NCIt; C34373; Amyotrophic lateral sclerosis
DI   ORDO; Orphanet_803; Amyotrophic lateral sclerosis
OX   NCBI_TaxID=9606; ! Homo sapiens
SX   Female
AG   48Y
CA   Induced pluripotent stem cell
DT   Created: 02-07-20; Last updated: 17-03-22; Version: 4
//
RX   PubMed=32739880; DOI=10.1016/j.scr.2020.101924;
RA   D'Anzi A., Altieri F., Perciballi E., Ferrari D., Bernardini L.,
RA   Goldoni M., Mazzini L., De Marchi F., Di Pierro A., D'Alfonso S.,
RA   Gelati M., Vescovi A.L., Rosati J.;
RT   "Generation of an induced pluripotent stem cell line, CSSi011-A
RT   (6534), from an amyotrophic lateral sclerosis patient with
RT   heterozygous L145F mutation in SOD1 gene.";
RL   Stem Cell Res. 47:101924-101924(2020).
//