ID   KURNDi005-A
AC   CVCL_QY98
SY   CCALD 5 iPSC
DR   Wikidata; Q54900723
RX   PubMed=29128817;
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; p.Arg554His (c.1661G>A); ClinVar=VCV000166625; Zygosity=Hemizygous (PubMed=29128817).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): PubMed=29128817
ST   Amelogenin: X,Y
ST   CSF1PO: 11,12
ST   D13S317: 8,11
ST   D16S539: 11,12
ST   D18S51: 16,19
ST   D19S433: 13
ST   D21S11: 30
ST   D2S1338: 18,20
ST   D3S1358: 15,16
ST   D5S818: 7,13
ST   D7S820: 11,12
ST   D8S1179: 13,15
ST   FGA: 18,24
ST   Penta D: 12,13
ST   Penta E: 18,21
ST   TH01: 7
ST   TPOX: 9,11
ST   vWA: 15,16
DI   NCIt; C61252; Adrenoleukodystrophy
DI   ORDO; Orphanet_139396; X-linked cerebral adrenoleukodystrophy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   21Y
CA   Induced pluripotent stem cell
DT   Created: 05-03-18; Last updated: 19-12-24; Version: 11
//
RX   PubMed=29128817; DOI=10.1016/j.scr.2017.10.016;
RA   You Y.R., Son D., Kang P.J., You S., Kim D.-S.;
RT   "Generation of induced pluripotent stem cell (iPSC) line from a
RT   21-year-old X-linked adrenoleukodystrophy (X-ALD) patient.";
RL   Stem Cell Res. 25:136-138(2017).
//