ID   SCVIi091-A
AC   CVCL_D0LB
SY   SCVI-2617; SCVI2617
DR   BioSamples; SAMEA113567256
DR   hPSCreg; SCVIi091-A
DR   Wikidata; Q123033434
RX   PubMed=38100909;
CC   From: Stanford Cardiovascular Institute; Palo Alto; USA.
CC   Population: East Asian.
CC   Sequence variation: Mutation; HGNC; 12405; TTR; Simple; p.Ala117Ser (c.349G>T); ClinVar=VCV000013468; Zygosity=Heterozygous (PubMed=38100909).
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   Female
AG   75Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 02-05-24; Version: 3
//
RX   PubMed=38100909; DOI=10.1016/j.scr.2023.103265;
RA   Melesio J.A., Bonilauri B., Li A., Pang P.D., Liao R.-L., Witteles R.M.,
RA   Wu J.C., Sallam K.;
RT   "Generation of two induced pluripotent stem cell lines from hereditary
RT   amyloidosis patients with polyneuropathy carrying heterozygous
RT   transthyretin (TTR) mutation.";
RL   Stem Cell Res. 74:103265-103265(2024).
//