ID   HPIi001-B
AC   CVCL_A5FB
SY   iPS-6303-R12
DR   BioSamples; SAMEA114562355
DR   hPSCreg; HPIi001-B
DR   Wikidata; Q107115358
RX   PubMed=33740643;
CC   From: Harry Perkins Institute of Medical Research, University of Western Australia; Nedlands; Australia.
CC   Population: Turkish.
CC   Sequence variation: Mutation; HGNC; 129; ACTA1; Simple; p.Arg185Ser (c.553C>A); ClinVar=VCV000420099; Zygosity=Heterozygous (PubMed=33740643).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C129870; Nemaline myopathy 3
DI   ORDO; Orphanet_171436; Typical nemaline myopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_A5FA ! HPIi001-A
SX   Female
AG   4M
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 30-01-24; Version: 5
//
RX   PubMed=33740643; DOI=10.1016/j.scr.2021.102273;
RA   Clayton J.S., Scriba C.K., Romero N.B., Malfatti E., Saker S.,
RA   Larmonier T., Nowak K.J., Ravenscroft G., Laing N.G., Taylor R.L.;
RT   "Generation of two isogenic induced pluripotent stem cell lines from a
RT   4-month-old severe nemaline myopathy patient with a heterozygous
RT   dominant c.553C > A (p.Arg183Ser) variant in the ACTA1 gene.";
RL   Stem Cell Res. 53:102273-102273(2021).
//