Cellosaurus cell line HPIi001-A (CVCL

Cross-references
Cell line name	HPIi001-A
Synonyms	iPS-6303-C6B3
Accession	CVCL_A5FA
Resource Identification Initiative	To cite this cell line use: HPIi001-A (RRID:CVCL_A5FA)
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_A5FB ! HPIi001-B
Sex of cell	Female
Age at sampling	4M
Category	Induced pluripotent stem cell
Publications	PubMed=33740643; DOI=10.1016/j.scr.2021.102273 Clayton J.S., Scriba C.K., Romero N.B., Malfatti E., Saker S., Larmonier T., Nowak K.J., Ravenscroft G., Laing N.G., Taylor R.L. 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-A
Biological sample resources	BioSamples; SAMEA114558319
Encyclopedic resources	Wikidata; Q107115356
Entry history
Entry creation	20-May-2021
Last entry update	19-Dec-2024
Version number	6