ID   chHES-480
AC   CVCL_A4GL
DR   Wikidata; Q105506617
RX   PubMed=27934597;
CC   From: National Engineering and Research Center of Human Stem Cells; Changsha; China.
CC   Sequence variation: Mutation; HGNC; HGNC:61; ABCD1; Simple; p.Glu609Lys (c.1825G>A); ClinVar=VCV000166626; Zygosity=Hemizygous (PubMed=27934597).
CC   Derived from site: In situ; Blastocyst; UBERON=UBERON_0000358.
CC   Cell type: Embryonic stem cell; CL=CL_0002322.
DI   NCIt; C61252; Adrenoleukodystrophy
DI   ORDO; Orphanet_139396; X-linked cerebral adrenoleukodystrophy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   Blastocyst stage
CA   Embryonic stem cell
DT   Created: 12-01-21; Last updated: 19-12-24; Version: 6
//
RX   PubMed=27934597; DOI=10.1016/j.scr.2016.11.003;
RA   Ouyang Q., Zhou X.-Y., Chen J., Du J., Lu G.-X., Lin G., Sun Y.;
RT   "Generation of human embryonic stem cells from abnormal blastocyst
RT   diagnosed with adrenoleukodystrophy.";
RL   Stem Cell Res. 17:634-636(2016).
//