ID   HPIi002-A
AC   CVCL_A5FC
SY   iPS-789-C1
DR   BioSamples; SAMEA114562536
DR   hPSCreg; HPIi002-A
DR   Wikidata; Q107115359
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; 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_A5FD ! HPIi002-B
SX   Female
AG   10Y
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 19-12-24; Version: 6
//
RX   PubMed=34388489; DOI=10.1016/j.scr.2021.102482;
RA   Clayton, Joshua S.
RA   Scriba, Carolin K.
RA   Romero, Norma Beatriz
RA   Malfatti, Edoardo
RA   Saker, Safaa
RA   Larmonier, Thierry
RA   Nowak, Kristen J.
RA   Ravenscroft, Gianina
RA   Laing, Nigel G.
RA   Taylor, Rhonda 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).
//