Cellosaurus cell line HPIi001-B (CVCL

Cellosaurus HPIi001-B (CVCL_A5FB)

Cross-references
Cell line name	HPIi001-B
Synonyms	iPS-6303-R12
Accession	CVCL_A5FB
Resource Identification Initiative	To cite this cell line use: HPIi001-B (RRID:CVCL_A5FB)
Comments	From: Harry Perkins Institute of Medical Research, University of Western Australia; Nedlands; Australia. Population: Turkish. Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV). Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:129; ACTA1; Simple; p.Arg185Ser (c.553C>A); ClinVar=VCV000420099; Zygosity=Heterozygous (PubMed=33740643).
Disease	Nemaline myopathy 3 (NCIt: C129870) Typical nemaline myopathy (ORDO: Orphanet_171436)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual	CVCL_A5FA ! HPIi001-A
Sex of cell	Female
Age at sampling	4M
Category	Induced pluripotent stem cell
Publications	PubMed=33740643; DOI=10.1016/j.scr.2021.102273 Joshua S. Clayton, Carolin K. Scriba, Norma Beatriz Romero, Edoardo Malfatti, Safaa Saker, Thierry Larmonier, Kristen J. Nowak, Gianina Ravenscroft, Nigel G. Laing, Rhonda L. Taylor; Generation of two isogenic induced pluripotent stem cell lines from a 4-month-old severe nemaline myopathy patient with a heterozygous dominant c.553C > A (p.Arg183Ser) variant in the ACTA1 gene. Stem Cell Res. 53:102273-102273(2021)
Cell line databases/resources	hPSCreg; HPIi001-B
Biological sample resources	BioSamples; SAMEA114562355
Encyclopedic resources	Wikidata; Q107115358
Entry history
Entry creation	20-May-2021
Last entry update	19-Dec-2024
Version number	6