ID   SCVIi066-A
AC   CVCL_C1SD
SY   SCVI-2047; SCVI 2047; SCVI2047
DR   BioSamples; SAMEA110424193
DR   hPSCreg; SCVIi066-A
DR   Wikidata; Q114312980
RX   PubMed=37788558;
CC   From: Stanford Cardiovascular Institute; Palo Alto; USA.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 12405; TTR; Simple; p.Val50Met (c.148G>A) (V30M); dbSNP=rs28933979; Zygosity=Heterozygous (PubMed=37788558).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C165489; Hereditary transthyretin amyloid cardiomyopathy
DI   ORDO; Orphanet_85447; ATTRV30M amyloidosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   65Y
CA   Induced pluripotent stem cell
DT   Created: 22-09-22; Last updated: 30-01-24; Version: 5
//
RX   PubMed=37788558; DOI=10.1016/j.scr.2023.103215;
RA   Bonilauri B., Shin H.S., Htet M.H., Yan C.D., Witteles R.M., Sallam K.,
RA   Wu J.C.;
RT   "Generation of two induced pluripotent stem cell lines from patients
RT   with cardiac amyloidosis carrying heterozygous transthyretin (TTR)
RT   mutation.";
RL   Stem Cell Res. 72:103215-103215(2023).
//