ID   chHES-478
AC   CVCL_A4GS
DR   Wikidata; Q105506615
RX   PubMed=27934600;
CC   From: National Engineering and Research Center of Human Stem Cells; Changsha; China.
CC   Sequence variation: Mutation; HGNC; HGNC:12442; TYR; Simple; p.Arg299His (c.896G>A); ClinVar=VCV000003796; Zygosity=Heterozygous (PubMed=27934600).
CC   Sequence variation: Mutation; HGNC; HGNC:12442; TYR; Simple; p.Arg311Leufs*7 (c.929dupC) (c.929_930insC) (p.Pro310Glnfs*9); ClinVar=VCV000003771; Zygosity=Heterozygous (PubMed=27934600).
CC   Derived from site: In situ; Blastocyst; UBERON=UBERON_0000358.
CC   Cell type: Embryonic stem cell; CL=CL_0002322.
DI   NCIt; C168731; Oculocutaneous albinism type 1A
DI   ORDO; Orphanet_79431; Oculocutaneous albinism type 1A
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   Blastocyst stage
CA   Embryonic stem cell
DT   Created: 12-01-21; Last updated: 19-12-24; Version: 7
//
RX   PubMed=27934600; DOI=10.1016/j.scr.2016.11.004;
RA   Sun Y., Zhou X.-Y., Chen J., Du J., Lu G.-X., Lin G., Ouyang Q.;
RT   "Generation of human embryonic stem cells from abnormal blastocyst
RT   diagnosed with albinism.";
RL   Stem Cell Res. 17:643-645(2016).
//