ID   GENEA078
AC   CVCL_B886
SY   Genea078; SIVF078
DR   NIHhESC; NIHhESC-14-0252
DR   Wikidata; Q54835649
RX   PubMed=27346006;
WW   https://web.archive.org/web/20180912205435/http://geneabiocells.com/services/shelf-products/human-embryonic-stem-cells/
CC   From: Genea Biocells, Ltd; Sydney; Australia.
CC   Registration: NIH Human Embryonic Stem Cell Registry; NIHhESC-14-0252.
CC   Registration: UK Stem Cell Bank (UKSCB); Steering comm. appl. SCSC14-50.
CC   Sequence variation: Mutation; HGNC; HGNC:7720; NEB; Simple; c.15110dupA; Zygosity=Heterozygous (PubMed=27346006).
CC   Sequence variation: Mutation; HGNC; HGNC:7720; NEB; Unexplicit; Ex55del; Zygosity=Heterozygous (PubMed=27346006).
CC   Donor information: Embryo is sibling to those giving rise to GENEA079 (Cellosaurus=CVCL_B887) and GENEA080 (Cellosaurus=CVCL_B888).
CC   Derived from site: In situ; Blastocyst; UBERON=UBERON_0000358.
CC   Cell type: Embryonic stem cell; CL=CL_0002322.
ST   Source(s): PubMed=27346006
ST   Amelogenin: X
ST   CSF1PO: 10,11
ST   D13S317: 11
ST   D16S539: 12
ST   D18S51: 12,13
ST   D19S433: 14,15
ST   D21S11: 28,30
ST   D2S1338: 17,24
ST   D3S1358: 15
ST   D5S818: 12,13
ST   D7S820: 8,10
ST   D8S1179: 11,13
ST   FGA: 22,23
ST   TH01: 6
ST   TPOX: 8
ST   vWA: 16,17
DI   NCIt; C118784; Nemaline myopathy 2
DI   ORDO; Orphanet_171436; Typical nemaline myopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   Blastocyst stage
CA   Embryonic stem cell
DT   Created: 06-06-12; Last updated: 19-12-24; Version: 20
//
RX   PubMed=27346006; DOI=10.1016/j.scr.2016.02.004;
RA   Dumevska B., Main H., McKernan R., Goel D., Schmidt U.;
RT   "Derivation of NEM2 affected human embryonic stem cell line
RT   Genea078.";
RL   Stem Cell Res. 16:427-429(2016).
//