ID   ATTR3
AC   CVCL_D2WJ
DR   Wikidata; Q127380243
RX   PubMed=30032658;
WW   https://stemcellbank.bu.edu/Catalog/Item/Details/659
CC   From: Boston University School of Medicine; Boston; USA.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:12405; TTR; Simple; p.Leu78His (c.233T>A) (L78H); ClinVar=VCV000013420; Zygosity=Heterozygous (PubMed=30032658).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C165489; Hereditary transthyretin amyloid cardiomyopathy
DI   ORDO; Orphanet_271861; Hereditary ATTR amyloidosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   53Y
CA   Induced pluripotent stem cell
DT   Created: 30-01-24; Last updated: 19-12-24; Version: 3
//
RX   PubMed=30032658; DOI=10.1080/13506129.2018.1489228; PMCID=PMC6319917;
RA   Giadone R.M., Rosarda J.D., Akepati P.R., Thomas A.C., Boldbaatar B.,
RA   James M.F., Wilson A.A., Sanchorawala V., Connors L.H., Berk J.L.,
RA   Wiseman R.L., Murphy G.J.;
RT   "A library of ATTR amyloidosis patient-specific induced pluripotent
RT   stem cells for disease modelling and in vitro testing of novel
RT   therapeutics.";
RL   Amyloid 25:148-155(2018).
//