ID   PUMCHi005-A
AC   CVCL_A9T3
SY   PUMCH-CA-
DR   BioSamples; SAMEA7211859
DR   hPSCreg; PUMCHi005-A
DR   Wikidata; Q102114790
RX   PubMed=32858486;
CC   From: Peking Union Medical College Hospital; Beijing; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 12405; TTR; Simple; p.Phe53Val (c.157T>G); Zygosity=Heterozygous (PubMed=32858486).
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   28Y
CA   Induced pluripotent stem cell
DT   Created: 29-10-20; Last updated: 05-10-23; Version: 6
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RX   PubMed=32858486; DOI=10.1016/j.scr.2020.101940;
RA   He S., Jin Y., Xing H.-P., He X.-Y., Zhang S.-Y.;
RT   "Establishment of an induced pluripotent stem cell line from a patient
RT   with hereditary transthyretin amyloidosis carrying transthyretin (TTR)
RT   mutation p.Phe53Val.";
RL   Stem Cell Res. 48:101940-101940(2020).
//