Cellosaurus cell line HPIi003-A (CVCL

Cross-references
Cell line name	HPIi003-A
Synonyms	iPS-7247-C5
Accession	CVCL_C0ZE
Resource Identification Initiative	To cite this cell line use: HPIi003-A (RRID:CVCL_C0ZE)
Comments	From: Harry Perkins Institute of Medical Research, University of Western Australia; Nedlands; Australia. Population: Caucasian; French. 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.Ala172Glu (c.515C>A); ClinVar=VCV000128261; Zygosity=Heterozygous (PubMed=35728439).
Disease	Nemaline myopathy 3 (NCIt: C129870) Typical nemaline myopathy (ORDO: Orphanet_171436)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	3M
Category	Induced pluripotent stem cell
Publications	PubMed=35728439; DOI=10.1016/j.scr.2022.102829 Clayton J.S., Suleski I.S., Vo C., Smith R., Scriba C.K., Saker S., Larmonier T., Malfatti E., Romero N.B., Houweling P.J., Nowak K.J., Ravenscroft G., Laing N.G., Taylor R.L. Generation of an induced pluripotent stem cell line from a 3-month-old nemaline myopathy patient with a heterozygous dominant c.515C > A (p.Ala172Glu) variant in the ACTA1 gene. Stem Cell Res. 63:102829-102829(2022)
Cell line databases/resources	hPSCreg; HPIi003-A
Encyclopedic resources	Wikidata; Q114311635
Entry history
Entry creation	22-Sep-2022
Last entry update	19-Dec-2024
Version number	5