ID   REGUi009-A
AC   CVCL_A1QD
SY   hiPS 5-9016
DR   BioSamples; SAMEA7628702
DR   hPSCreg; REGUi009-A
DR   Wikidata; Q102114803
RX   PubMed=33370874;
CC   From: Institute for Regenerative Medecine and Biotherapy; Montpellier; France.
CC   Population: Turkish.
CC   Sequence variation: Mutation; HGNC; 2226; COLQ; Simple; p.Cys427Cys (c.1281C>T); ClinVar=VCV000536241; Zygosity=Homozygous; Note=Activates a cryptic splice site (PubMed=33370874).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C84647; Congenital myasthenic syndrome
DI   ORDO; Orphanet_590; Congenital myasthenic syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   28Y
CA   Induced pluripotent stem cell
DT   Created: 29-10-20; Last updated: 29-06-23; Version: 5
//
RX   PubMed=33370874; DOI=10.1016/j.scr.2020.102106;
RA   Barbeau S., Desprat R., Eymard B., Martinat C., Lemaitre J.-M.,
RA   Legay C.;
RT   "Generation of a human induced pluripotent stem cell line (iPSC) from
RT   peripheral blood mononuclear cells of a patient with a myasthenic
RT   syndrome due to mutation in COLQ.";
RL   Stem Cell Res. 49:102106-102106(2020).
//