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Cellosaurus PUMCHi005-A (CVCL_A9T3)

[Text version]

Cell line name PUMCHi005-A
Synonyms PUMCH-CA-
Accession CVCL_A9T3
Resource Identification Initiative To cite this cell line use: PUMCHi005-A (RRID:CVCL_A9T3)
Comments From: Peking Union Medical College Hospital; Beijing; China.
Population: Chinese; Han.
Derived from sampling site: Peripheral blood.
Sequence variations Mutation; HGNC; 12405; TTR; Simple; p.Phe53Val (c.157T>G); Zygosity=Heterozygous (PubMed=32858486).
Disease Hereditary transthyretin amyloid cardiomyopathy (NCIt: C165489)
ATTRV122I amyloidosis (ORDO: Orphanet_85451)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 28Y
Category Induced pluripotent stem cell
Publications

PubMed=32858486; DOI=10.1016/j.scr.2020.101940
He S., Jin Y., Xing H.-P., He X.-Y., Zhang S.-Y.
Establishment of an induced pluripotent stem cell line from a patient with hereditary transthyretin amyloidosis carrying transthyretin (TTR) mutation p.Phe53Val.
Stem Cell Res. 48:101940-101940(2020)

Cross-references
Cell line databases/resources hPSCreg; PUMCHi005-A
Biological sample resources BioSamples; SAMEA7211859
Encyclopedic resources Wikidata; Q102114790
Entry history
Entry creation29-Oct-2020
Last entry update20-May-2021
Version number3