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Cellosaurus NUIGi001-A (CVCL_QX90)

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Cell line name NUIGi001-A
Synonyms ARO-iPSC1-11; iPSC ARO1-11
Accession CVCL_QX90
Resource Identification Initiative To cite this cell line use: NUIGi001-A (RRID:CVCL_QX90)
Comments From: National University of Ireland Galway; Galway; Ireland.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:14974; SNX10; Simple; c.212+1G>T; Zygosity=Homozygous; Note=Splice donor mutation (PubMed=29034896).
Disease Autosomal recessive osteopetrosis 8 (NCIt: C150556)
Autosomal recessive malignant osteopetrosis (ORDO: Orphanet_667)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 41Y
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=29034896

Markers:
AmelogeninX
CSF1PO11,12
D1S165614
D2S133816,18
D3S135815,17
D5S81810
D6S104311,12
D7S82011,13
D8S117913
D12S39122,26
D13S31711
D16S5399,13
D18S5115,17
D19S43313,14
D21S1129
FGA22,24
Penta D9,12
Penta E7,21
TH017,9.3
TPOX8
vWA14,16

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Publications

PubMed=29034896; DOI=10.1016/j.scr.2017.07.024
Mao-Jia Xu, Eva-Lena Stattin, Mary Murphy, Frank Barry;
Generation of induced pluripotent stem cells (ARO-iPSC1-11) from a patient with autosomal recessive osteopetrosis harboring the c.212+1G>T mutation in SNX10 gene.
Stem Cell Res. 24:51-54(2017)

Cross-references
Cell line databases/resources hPSCreg; NUIGi001-A
Biological sample resources BioSamples; SAMEA104243152
Encyclopedic resources Wikidata; Q54931167
Entry history
Entry creation15-Nov-2017
Last entry update19-Dec-2024
Version number12