ID   MIPTi001-A
AC   CVCL_D4WY
SY   NAA
DR   BioSamples; SAMEA114469822
DR   hPSCreg; MIPTi001-A
DR   Wikidata; Q127382828
RX   PubMed=38176367;
CC   From: Moscow Institute of Physics and Technology; Moscow; Russia.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:61; ABCD1; Simple; p.Glu291Lys (c.871G>A); ClinVar=VCV000011292; Zygosity=Hemizygous (PubMed=38176367).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C61252; Adrenoleukodystrophy
DI   ORDO; Orphanet_139396; X-linked cerebral adrenoleukodystrophy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   8Y
CA   Induced pluripotent stem cell
DT   Created: 30-01-24; Last updated: 19-12-24; Version: 3
//
RX   PubMed=38176367; DOI=10.1016/j.scr.2023.103298;
RA   Gornostal, Ekaterina
RA   Alsalloum, Almaqdad
RA   Mityaeva, Olga
RA   Volchkov, Pavel Yuryevich
RT   "Generation of induced pluripotent stem line (MIPTi001-A) derived from
RT   patient with X-linked adrenoleukodystrophy (X-ALD).";
RL   Stem Cell Res. 74:103298-103298(2024).
//