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Cellosaurus iPSC-CGD2 (CVCL_V183)

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Cell line name iPSC-CGD2
Accession CVCL_V183
Resource Identification Initiative To cite this cell line use: iPSC-CGD2 (RRID:CVCL_V183)
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; Simple; c.46-11T>G (IVS1-11T>G); 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
CSF1PO12
D3S135816,18
D5S81811,13
D7S82011,12
D8S117910,15
D13S3178,11
D16S53910,11
D18S5116,19
D21S1130,31
FGA24
Penta D9,12
Penta E11,15
TH017,9.3
TPOX8,11
vWA16,17

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Publications

PubMed=22311747; DOI=10.1002/stem.1053; PMCID=PMC3593166
Yan Jiang, Sally Anne Cowley, Ulrich Siler, Dario Melguizo-Sanchis, Katarzyna Tilgner, Cathy Browne, Angus Dewilton, Stefan A. Przyborski, Gabriele Saretzki, William S. James, Reinhard Alexander Seger ...Show all 14 authors... , Janine Reichenbach, Majlinda Lako, Lyle Armstrong; Show fewer authors
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; Q54898218
Entry history
Entry creation16-Apr-2014
Last entry update19-Dec-2024
Version number11