ID   IAIi005-A
AC   CVCL_C3RN
SY   AC52
DR   BioSamples; SAMEA111351711
DR   hPSCreg; IAIi005-A
DR   Wikidata; Q116049548
RX   PubMed=36528014;
CC   From: Istituto Auxologico Italiano (IAI)-IRCCS; Milan; Italy.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 28337; C9orf72; Repeat_expansion; c.-45+163GGGGCC[>24] (GGGGCC repeat expansion); ClinVar=VCV000031151; Zygosity=Heterozygous (PubMed=36528014).
CC   Donor information: At sampling donor was asymptomatic for amyotrophic lateral sclerosis.
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C168756; Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
DI   ORDO; Orphanet_803; Amyotrophic lateral sclerosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   89Y
CA   Induced pluripotent stem cell
DT   Created: 15-12-22; Last updated: 29-06-23; Version: 3
//
RX   PubMed=36528014; DOI=10.1016/j.scr.2022.102998;
RA   Lattuada C., Santangelo S., Peverelli S., McGoldrick P., Rogaeva E.,
RA   Zinman L., Haase G., Geli V., Silani V., Robertson J., Ratti A.,
RA   Bossolasco P.;
RT   "Generation of five induced pluripotent stem cells lines from four
RT   members of the same family carrying a C9orf72 repeat expansion and
RT   one wild-type member.";
RL   Stem Cell Res. 66:102998-102998(2023).
//