Cellosaurus cell line IBMS-iPSC-070-02 (CVCL

Cellosaurus IBMS-iPSC-070-02 (CVCL_A4YW)

Cross-references
Cell line name	IBMS-iPSC-070-02
Synonyms	IBMSi025-A
Accession	CVCL_A4YW
Resource Identification Initiative	To cite this cell line use: IBMS-iPSC-070-02 (RRID:CVCL_A4YW)
Comments	From: Institute of Biomedical Sciences, Academia Sinica; Taipei; Taiwan. Population: Chinese. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:15894; PANK2; Simple; p.Leu111Gln (c.332T>A); ClinVar=VCV000193506; Zygosity=Heterozygous (PubMed=33517123). Mutation; HGNC; HGNC:15894; PANK2; Simple; c.1413-9_-14dupTTCCCC; Zygosity=Heterozygous (PubMed=33517123). Mutation; HGNC; HGNC:15894; PANK2; Simple; p.Asn500Ile (c.1499A>T); dbSNP=rs759332123; Zygosity=Heterozygous (PubMed=33517123).
Disease	Brain iron accumulation type I syndrome (NCIt: C8967) Atypical pantothenate kinase-associated neurodegeneration (ORDO: Orphanet_216873)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	44Y
Category	Induced pluripotent stem cell
Publications	PubMed=33517123; DOI=10.1016/j.scr.2021.102190 Chih-Hsin Ou-Yang, Chun-Hwei Tai, Han-Yi Lin, Cheng-Yen Huang, Chin-Hsien Lin; Generation of a human induced pluripotent stem cell (iPSC) line (IBMS-iPSC-070-02) from a patient with neurodegeneration with brain iron accumulation (NBIA) having compound heterozygous mutations in PANK2 gene. Stem Cell Res. 51:102190-102190(2021)
Cell line databases/resources	hPSCreg; IBMSi025-A
Biological sample resources	BioSamples; SAMEA7873754
Encyclopedic resources	Wikidata; Q107115414
Entry history
Entry creation	20-May-2021
Last entry update	14-Aug-2025
Version number	7