Cellosaurus cell line chHES-480 (CVCL

Cross-references
Cell line name	chHES-480
Accession	CVCL_A4GL
Resource Identification Initiative	To cite this cell line use: chHES-480 (RRID:CVCL_A4GL)
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:61; ABCD1; Simple; p.Glu609Lys (c.1825G>A); ClinVar=VCV000166626; Zygosity=Hemizygous (PubMed=27934597).
Disease	Adrenoleukodystrophy (NCIt: C61252) X-linked cerebral adrenoleukodystrophy (ORDO: Orphanet_139396)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	Blastocyst stage
Category	Embryonic stem cell
Publications	PubMed=27934597; DOI=10.1016/j.scr.2016.11.003 Ouyang Q., Zhou X.-Y., Chen J., Du J., Lu G.-X., Lin G., Sun Y. Generation of human embryonic stem cells from abnormal blastocyst diagnosed with adrenoleukodystrophy. Stem Cell Res. 17:634-636(2016)
Encyclopedic resources	Wikidata; Q105506617
Entry history
Entry creation	12-Jan-2021
Last entry update	19-Dec-2024
Version number	6