ID   GENEA069
AC   CVCL_9078
SY   SIVF069
DR   NIHhESC; NIHhESC-12-0181
DR   Wikidata; Q54835639
RX   CelloPub=CLPUB00370;
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-12-0181.
CC   Registration: UK Stem Cell Bank (UKSCB); Steering comm. appl. SCSC14-51.
CC   Sequence variation: Mutation; HGNC; HGNC:12703; BEST1; Simple; p.Phe305Ser (c.914T>C); ClinVar=VCV000099778; Zygosity=Unspecified (CelloPub=CLPUB00370).
CC   Donor information: Embryo is sibling to that giving rise to GENEA070 (Cellosaurus=CVCL_9079).
CC   Derived from site: In situ; Blastocyst; UBERON=UBERON_0000358.
CC   Cell type: Embryonic stem cell; CL=CL_0002322.
DI   NCIt; C118788; Vitelliform macular dystrophy
DI   ORDO; Orphanet_1243; Best vitelliform macular dystrophy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   Blastocyst stage
CA   Embryonic stem cell
DT   Created: 06-06-12; Last updated: 19-12-24; Version: 21
//
RX   CelloPub=CLPUB00370;
RA   O'Connor M.D., Mangala M.M., Schmidt U.;
RT   "Modelling best vitelliform macular dystrophy with human embryonic
RT   stem cells.";
RL   Invest. Ophthalmol. Vis. Sci. 53:S5207-S5207(2012).
//