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Cellosaurus iPSC-CGD3 (CVCL_V184)

[Text version]
Cell line name iPSC-CGD3
Accession CVCL_V184
Resource Identification Initiative To cite this cell line use: iPSC-CGD3 (RRID:CVCL_V184)
Comments Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:2578; CYBB; Unexplicit; Ex1-3del; Zygosity=Hemizygous (PubMed=22311747).
Disease X-linked chronic granulomatous disease (NCIt: C154315)
Chronic granulomatous disease (ORDO: Orphanet_379)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling Age unspecified
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=22311747

Markers:
AmelogeninX,Y
CSF1PO10,11
D3S135815,17
D5S81812,13
D7S82010,11
D8S117914,15
D13S3179,11
D16S5399,11
D18S5110,16
D21S1128
FGA21,24
Penta D13
Penta E11,14
TH018
TPOX8
vWA17,18

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Publications

PubMed=22311747; DOI=10.1002/stem.1053; PMCID=PMC3593166
Jiang Y., Cowley S.A., Siler U., Melguizo-Sanchis D., Tilgner K., Browne C., Dewilton A., Przyborski S., Saretzki G., James W.S., Seger R.A., Reichenbach J., Lako M., Armstrong L.
Derivation and functional analysis of patient-specific induced pluripotent stem cells as an in vitro model of chronic granulomatous disease.
Stem Cells 30:599-611(2012)

Cross-references
Encyclopedic resources Wikidata; Q54898222
Entry history
Entry creation16-Apr-2014
Last entry update19-Dec-2024
Version number11