Cellosaurus cell line chHES-478 (CVCL

Cross-references
Cell line name	chHES-478
Accession	CVCL_A4GS
Resource Identification Initiative	To cite this cell line use: chHES-478 (RRID:CVCL_A4GS)
Comments	From: National Engineering and Research Center of Human Stem Cells; Changsha; China. Derived from site: In situ; Blastocyst; UBERON=UBERON_0000358. Cell type: Embryonic stem cell; CL=CL_0002322.
Sequence variations	Mutation; HGNC; HGNC:12442; TYR; Simple; p.Arg299His (c.896G>A); ClinVar=VCV000003796; Zygosity=Heterozygous (PubMed=27934600). Mutation; HGNC; HGNC:12442; TYR; Simple; p.Arg311Leufs7 (c.929dupC) (c.929_930insC) (p.Pro310Glnfs9); ClinVar=VCV000003771; Zygosity=Heterozygous (PubMed=27934600).
Disease	Oculocutaneous albinism type 1A (NCIt: C168731) Oculocutaneous albinism type 1A (ORDO: Orphanet_79431)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	Blastocyst stage
Category	Embryonic stem cell
Publications	PubMed=27934600; DOI=10.1016/j.scr.2016.11.004 Sun Y., Zhou X.-Y., Chen J., Du J., Lu G.-X., Lin G., Ouyang Q. Generation of human embryonic stem cells from abnormal blastocyst diagnosed with albinism. Stem Cell Res. 17:643-645(2016)
Encyclopedic resources	Wikidata; Q105506615
Entry history
Entry creation	12-Jan-2021
Last entry update	19-Dec-2024
Version number	7