ID   YUSEVi005-A
AC   CVCL_QY96
SY   AMN 5 iPSC; AMN 5; SCHI001-A
DR   BioSamples; SAMEA10405028
DR   hPSCreg; SCHI001-A
DR   Wikidata; Q54995797
RX   PubMed=29065337;
RX   PubMed=35042083;
CC   From: Yonsei University College of Medicine; Seoul; South Korea.
CC   Population: Korean.
CC   Sequence variation: Mutation; HGNC; 61; ABCD1; Simple; p.Gly512Ser (c.1534G>A); ClinVar=VCV000585301; Zygosity=Hemizygous (PubMed=29065337).
CC   Cell type: Fibroblast; CL=CL_0000057.
ST   Source(s): PubMed=29065337
ST   Amelogenin: X,Y
ST   CSF1PO: 11
ST   D13S317: 10,12
ST   D16S539: 9,11,12,13
ST   D18S51: 12,13,15,18
ST   D19S433: 14,15.2
ST   D21S11: 28,29,31,32.2
ST   D2S1338: 22,23,24
ST   D3S1358: 15,17,18
ST   D5S818: 11,13
ST   D7S820: 11,12
ST   D8S1179: 13,15
ST   FGA: 19,23
ST   Penta D: 9
ST   Penta E: 11,16,18,23
ST   TH01: 6,9
ST   TPOX: 8,9,11
ST   vWA: 14,16,17,20
DI   NCIt; C61252; Adrenoleukodystrophy
DI   ORDO; Orphanet_139396; X-linked cerebral adrenoleukodystrophy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   34Y
CA   Induced pluripotent stem cell
DT   Created: 05-03-18; Last updated: 29-06-23; Version: 10
//
RX   PubMed=29065337; DOI=10.1016/j.scr.2017.10.003;
RA   Son D., Quan Z.-J., Kang P.J., Park G., Kang H.-C., You S.;
RT   "Generation of two induced pluripotent stem cell (iPSC) lines from
RT   X-linked adrenoleukodystrophy (X-ALD) patients with
RT   adrenomyeloneuropathy (AMN).";
RL   Stem Cell Res. 25:46-49(2017).
//
RX   PubMed=35042083; DOI=10.1016/j.scr.2022.102664;
RA   Jung E.S., Kim J.H., Chang M.-Y., Hong W.-J., Quan Z.-J., Kim S.H.,
RA   You S., Kim D.-S., Jang J., Lee S.-H., Kim H.H., Kang H.-C.;
RT   "Generation of mutation-corrected induced pluripotent stem cell lines
RT   derived from adrenoleukodystrophy patient by using homology directed
RT   repair.";
RL   Stem Cell Res. 59:102664-102664(2022).
//