ID   AMN iPSC-3
AC   CVCL_B941
DR   Wikidata; Q54749809
RX   PubMed=21721033;
CC   From: Yonsei University College of Medicine; Seoul; South Korea.
CC   Sequence variation: Mutation; HGNC; HGNC:61; ABCD1; Unexplicit; Ex8-10del; Zygosity=Hemizygous (from parent cell line).
CC   Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): PubMed=21721033
ST   Amelogenin: X,Y
ST   CSF1PO: 11,12
ST   D13S317: 12
ST   D16S539: 12,13
ST   D18S51: 12,18
ST   D19S433: 12,14
ST   D21S11: 30,32.2
ST   D2S1338: 25,26
ST   D3S1358: 14,16
ST   D5S818: 9,12
ST   D7S820: 8,10
ST   D8S1179: 10,11
ST   FGA: 20,24
ST   TH01: 6,7
ST   TPOX: 8
ST   vWA: 18,19
DI   NCIt; C61252; Adrenoleukodystrophy
DI   ORDO; Orphanet_139396; X-linked cerebral adrenoleukodystrophy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_W059 ! GM17819
SX   Male
AG   32Y
CA   Induced pluripotent stem cell
DT   Created: 06-06-12; Last updated: 19-12-24; Version: 15
//
RX   PubMed=21721033; DOI=10.1002/ana.22486;
RA   Jang J., Kang H.-C., Kim H.-S., Kim J.Y., Huh Y.J., Kim D.-S.,
RA   Yoo J.-E., Lee J.-A., Lim B., Lee J., Yoon T.-M., Park I.-H.,
RA   Hwang D.-Y., Daley G.Q., Kim D.-W.;
RT   "Induced pluripotent stem cell models from X-linked
RT   adrenoleukodystrophy patients.";
RL   Ann. Neurol. 70:402-409(2011).
//