Cellosaurus cell line PUMCHi004-A (CVCL

Cross-references
Cell line name	PUMCHi004-A
Synonyms	PUMCH-hATTR004
Accession	CVCL_ZX53
Resource Identification Initiative	To cite this cell line use: PUMCHi004-A (RRID:CVCL_ZX53)
Comments	From: Peking Union Medical College Hospital; Beijing; China. Population: Chinese; Han. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:12405; TTR; Simple; p.Asp38Asn (c.112G>A); ClinVar=VCV000571867; Zygosity=Heterozygous (PubMed=33038745).
Disease	Hereditary transthyretin amyloid cardiomyopathy (NCIt: C165489) Hereditary ATTR amyloidosis (ORDO: Orphanet_271861)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	13Y
Category	Induced pluripotent stem cell
Publications	PubMed=33038745; DOI=10.1016/j.scr.2020.102022 Shan He, Ye Jin, Zhu-Ang Tian, Tian-Rui Hua, Hai-Ping Xing, Sheng-Sheng Zhuang, Xin-Yue He, Han-Yu Li, Lun Wang, Shu-Yang Zhang; Establishment of an induced pluripotent stem cell line PUMCHi004-A from a hereditary transthyretin amyloid cardiomyopathy patient with transthyretin (TTR) p.Asp38Asn mutation. Stem Cell Res. 49:102022-102022(2020)
Cell line databases/resources	hPSCreg; PUMCHi004-A
Biological sample resources	BioSamples; SAMEA7002522
Encyclopedic resources	Wikidata; Q102114789
Entry history
Entry creation	29-Oct-2020
Last entry update	19-Dec-2024
Version number	7