ID   SCVIi092-A
AC   CVCL_D0LC
SY   SCVI-2628; SCVI2628
DR   BioSamples; SAMEA113567258
DR   hPSCreg; SCVIi092-A
DR   Wikidata; Q123033436
RX   PubMed=38100909;
CC   From: Stanford Cardiovascular Institute; Palo Alto; USA.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 12405; TTR; Simple; p.Phe84Leu (c.250T>C); ClinVar=VCV000013453; 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   68Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 02-05-24; Version: 3
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RX   PubMed=38100909; DOI=10.1016/j.scr.2023.103265; PMCID=PMC10883469;
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).
//