Cellosaurus cell line NJMUi001-A (CVCL

Cross-references
Cell line name	NJMUi001-A
Synonyms	iPKU-C10
Accession	CVCL_VE08
Resource Identification Initiative	To cite this cell line use: NJMUi001-A (RRID:CVCL_VE08)
Comments	From: Obstetrics and Gynecology Hospital, Nanjing Medical University; Nanjing; China. Population: Chinese; Han. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:8582; PAH; Simple; p.Arg111Ter (c.331C>T); ClinVar=VCV000000581; Zygosity=Heterozygous (PubMed=29154227). Mutation; HGNC; HGNC:8582; PAH; Simple; p.Tyr325Ter (c.975C>G); ClinVar=VCV000102921; Zygosity=Heterozygous (PubMed=29154227).
Disease	Phenylketonuria (NCIt: C81315) Phenylketonuria (ORDO: Orphanet_716)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	3M
Category	Induced pluripotent stem cell
Publications	PubMed=29154227; DOI=10.1016/j.scr.2017.11.008 Tian-Hui Xu, Dong Liang, Jing-Jing Zhang, Xiu-Qing Ji, Huan-Ran Hu, Yun Sun, Tao Jiang, Xia Wang, Ping Hu, Zheng-Feng Xu; Generation of integration-free induced pluripotent stem cell line (NJMUi001-A) from a phenylketonuria patient. Stem Cell Res. 25:179-182(2017)
Cell line databases/resources	hPSCreg; NJMUi001-A
Encyclopedic resources	Wikidata; Q54930653
Entry history
Entry creation	14-May-2018
Last entry update	19-Dec-2024
Version number	9