ID   HPIi002-B
AC   CVCL_A5FD
SY   iPS-789-C2
DR   BioSamples; SAMEA114562538
DR   hPSCreg; HPIi002-B
DR   Wikidata; Q107115360
RX   PubMed=34388489;
CC   From: Harry Perkins Institute of Medical Research, University of Western Australia; Nedlands; Australia.
CC   Population: Caucasian; French.
CC   Sequence variation: Mutation; HGNC; 129; ACTA1; Simple; p.Asp179Asn (c.541G>A); Zygosity=Heterozygous (PubMed=34388489).
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_A5FC ! HPIi002-A
SX   Female
AG   10Y
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 30-01-24; Version: 6
//
RX   PubMed=34388489; DOI=10.1016/j.scr.2021.102482;
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   10-year-old typical nemaline myopathy patient with a heterozygous
RT   dominant c.541G>A (p.Asp179Asn) pathogenic variant in the ACTA1
RT   gene.";
RL   Stem Cell Res. 55:102482-102482(2021).
//