Cellosaurus cell line IBMS-iPSC-077-01 (CVCL

Cross-references
Cell line name	IBMS-iPSC-077-01
Synonyms	NTUHi002-A
Accession	CVCL_C1XX
Resource Identification Initiative	To cite this cell line use: IBMS-iPSC-077-01 (RRID:CVCL_C1XX)
Comments	From: Institute of Biomedical Sciences, Academia Sinica; Taipei; Taiwan. Population: Chinese; Taiwan. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:2295; CP; Simple; c.607+1delG; ClinVar=VCV000426814; Zygosity=Homozygous; Note=Splice donor mutation (PubMed=35868289).
Disease	Aceruloplasminemia (NCIt: C189281) Aceruloplasminemia (ORDO: Orphanet_48818)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	71Y
Category	Induced pluripotent stem cell
Publications	PubMed=35868289; DOI=10.1016/j.scr.2022.102856 Chih-Hsin Ou-Yang, Han-I. Lin, Chin-Hsien Lin; Generation of a human induced pluripotent stem cell line NTUHi002-A from a patient with aceruloplasminemia harboring a homozygous splicing mutation c.607+1 delG in CP gene. Stem Cell Res. 63:102856-102856(2022)
Cell line databases/resources	hPSCreg; NTUHi002-A
Biological sample resources	BioSamples; SAMEA110190487
Encyclopedic resources	Wikidata; Q114311692
Entry history
Entry creation	22-Sep-2022
Last entry update	19-Dec-2024
Version number	6