ID   NUIGi001-A
AC   CVCL_QX90
SY   ARO-iPSC1-11; iPSC ARO1-11
DR   BioSamples; SAMEA104243152
DR   hPSCreg; NUIGi001-A
DR   Wikidata; Q54931167
RX   PubMed=29034896;
CC   From: National University of Ireland Galway; Galway; Ireland.
CC   Sequence variation: Mutation; HGNC; 14974; SNX10; Simple; c.212+1G>T; Zygosity=Homozygous; Note=Splice donor mutation (PubMed=29034896).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): PubMed=29034896
ST   Amelogenin: X
ST   CSF1PO: 11,12
ST   D12S391: 22,26
ST   D13S317: 11
ST   D16S539: 9,13
ST   D18S51: 15,17
ST   D19S433: 13,14
ST   D1S1656: 14
ST   D21S11: 29
ST   D2S1338: 16,18
ST   D3S1358: 15,17
ST   D5S818: 10
ST   D6S1043: 11,12
ST   D7S820: 11,13
ST   D8S1179: 13
ST   FGA: 22,24
ST   Penta D: 9,12
ST   Penta E: 7,21
ST   TH01: 7,9.3
ST   TPOX: 8
ST   vWA: 14,16
DI   NCIt; C150556; Autosomal recessive osteopetrosis 8
DI   ORDO; Orphanet_667; Autosomal recessive malignant osteopetrosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   41Y
CA   Induced pluripotent stem cell
DT   Created: 15-11-17; Last updated: 29-06-23; Version: 11
//
RX   PubMed=29034896; DOI=10.1016/j.scr.2017.07.024;
RA   Xu M.-J., Stattin E.-L., Murphy M., Barry F.;
RT   "Generation of induced pluripotent stem cells (ARO-iPSC1-11) from a
RT   patient with autosomal recessive osteopetrosis harboring the
RT   c.212+1G>T mutation in SNX10 gene.";
RL   Stem Cell Res. 24:51-54(2017).
//