ID   RG-201
AC   CVCL_B622
SY   SI-201; RGIe105-A
DR   hPSCreg; RGIe105-A
DR   ISCR; 321
DR   SKIP; SKIP002204
DR   Wikidata; Q54949975
RX   PubMed=15705304;
CC   From: Reproductive Genetics Institute; Chicago; USA.
CC   Sequence variation: Mutation; HGNC; 61; ABCD1; Simple; p.Gln472Argfs*83 (c.1415_1416delAG) (1801delAG); ClinVar=VCV000011303; Zygosity=Hemizygous (PubMed=15705304).
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: 06-06-12; Last updated: 29-06-23; Version: 13
//
RX   PubMed=15705304; DOI=10.1016/S1472-6483(10)60810-3;
RA   Verlinsky Y., Strelchenko N., Kukharenko V., Rechitsky S.,
RA   Verlinsky O., Galat V., Kuliev A.;
RT   "Human embryonic stem cell lines with genetic disorders.";
RL   Reprod. BioMed. Online 10:105-110(2005).
//