ID   HPIi004-A
AC   CVCL_C0ZF
SY   iPS-5964-R3
DR   hPSCreg; HPIi004-A
DR   Wikidata; Q114311636
RX   PubMed=35728440;
CC   From: Harry Perkins Institute of Medical Research, University of Western Australia; Nedlands; Australia.
CC   Population: Caucasian; Romani.
CC   Sequence variation: Mutation; HGNC; 129; ACTA1; Simple; p.Arg39Ter (c.121C>T); Zygosity=Homozygous (PubMed=35728440).
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_C0ZG ! HPIi004-B
SX   Male
AG   1M
CA   Induced pluripotent stem cell
DT   Created: 22-09-22; Last updated: 29-06-23; Version: 4
//
RX   PubMed=35728440; DOI=10.1016/j.scr.2022.102830;
RA   Suleski I.S., Smith R., Vo C., Scriba C.K., Saker S., Larmonier T.,
RA   Malfatti E., Romero N.B., Houweling P.J., Nowak K.J., Laing N.G.,
RA   Taylor R.L., Clayton J.S.;
RT   "Generation of two isogenic induced pluripotent stem cell lines from a
RT   1-month-old nemaline myopathy patient harbouring a homozygous
RT   recessive c.121C > T (p.Arg39Ter) variant in the ACTA1 gene.";
RL   Stem Cell Res. 63:102830-102830(2022).
//