ID   YUSEVi006-A
AC   CVCL_QY97
SY   AMN 6 iPSC
DR   Wikidata; Q54995798
RX   PubMed=29065337;
CC   From: Yonsei University College of Medicine; Seoul; South Korea.
CC   Population: Korean.
CC   Sequence variation: Mutation; HGNC; HGNC:61; ABCD1; Simple; p.Ile657del (c.1970_1972delTCA) (c.1968_1970delCAT); ClinVar=VCV00125620; 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: 9,13
ST   D18S51: 13,15
ST   D19S433: 14,15.2
ST   D21S11: 28,29
ST   D2S1338: 23,24
ST   D3S1358: 17,18
ST   D5S818: 11
ST   D7S820: 12
ST   D8S1179: 15
ST   FGA: 19,23
ST   Penta D: 9
ST   Penta E: 16,18
ST   TH01: 6,9
ST   TPOX: 8,9
ST   vWA: 16,17
DI   NCIt; C61252; Adrenoleukodystrophy
DI   ORDO; Orphanet_139396; X-linked cerebral adrenoleukodystrophy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   43Y
CA   Induced pluripotent stem cell
DT   Created: 05-03-18; Last updated: 19-12-24; Version: 9
//
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).
//