ID   KURNDi007-A
AC   CVCL_WK25
SY   acALD7
DR   Wikidata; Q95980505
RX   PubMed=30921588;
CC   From: Department of Biotechnology, College of Life Sciences and Biotechnology, Korea University; Seoul; South Korea.
CC   Population: Korean.
CC   Sequence variation: Mutation; HGNC; HGNC:61; ABCD1; Simple; c.1240_1253delGGCTACACAGCCCGinsCCGTCC; Zygosity=Hemizygous (PubMed=30921588).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): PubMed=30921588
ST   Amelogenin: X,Y
ST   CSF1PO: 12
ST   D13S317: 11,12,13
ST   D16S539: 9,11
ST   D18S51: 13,16
ST   D19S433: 13,15.2
ST   D21S11: 30
ST   D2S1338: 18,22
ST   D3S1358: 15
ST   D5S818: 11
ST   D7S820: 11,12
ST   D8S1179: 13,15
ST   FGA: 19,21
ST   Penta D: 9,13
ST   Penta E: 5,16
ST   TH01: 6,9
ST   TPOX: 8,10
ST   vWA: 16
DI   NCIt; C61252; Adrenoleukodystrophy
DI   ORDO; Orphanet_139396; X-linked cerebral adrenoleukodystrophy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   42Y
CA   Induced pluripotent stem cell
DT   Created: 24-05-19; Last updated: 19-12-24; Version: 9
//
RX   PubMed=30921588; DOI=10.1016/j.scr.2019.101425;
RA   Yeon G.-B., Son D., Kang P.J., Oh S.-M., Lim H., Kang H.-C., You S.,
RA   Kim D.-S.;
RT   "Generation of an induced pluripotent stem cell (iPSC) line from a
RT   42-year-old adult cerebral type X-linked adrenoleukodystrophy (X-ALD)
RT   patient.";
RL   Stem Cell Res. 36:101425-101425(2019).
//