ID   PUMCHi004-A
DR   BioSamples; SAMEA7002522
DR   hPSCreg; PUMCHi004-A
DR   Wikidata; Q102114789
RX   PubMed=33038745;
CC   From: Peking Union Medical College Hospital; Beijing; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 12405; TTR; Simple; p.Asp38Asn (c.112G>A); ClinVar=VCV000571867; Zygosity=Heterozygous (PubMed=33038745).
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   13Y
CA   Induced pluripotent stem cell
DT   Created: 29-10-20; Last updated: 05-10-23; Version: 6
RX   PubMed=33038745; DOI=10.1016/j.scr.2020.102022;
RA   He S., Jin Y., Tian Z.-A., Hua T.-R., Xing H.-P., Zhuang S.-S.,
RA   He X.-Y., Li H.-Y., Wang L., Zhang S.-Y.;
RT   "Establishment of an induced pluripotent stem cell line PUMCHi004-A
RT   from a hereditary transthyretin amyloid cardiomyopathy patient with
RT   transthyretin (TTR) p.Asp38Asn mutation.";
RL   Stem Cell Res. 49:102022-102022(2020).