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Cellosaurus iPSC-CGD1.2 (CVCL_V182)

[Text version]
Cell line name iPSC-CGD1.2
Accession CVCL_V182
Resource Identification Initiative To cite this cell line use: iPSC-CGD1.2 (RRID:CVCL_V182)
Comments Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:7660; NCF1; Simple; p.Tyr26Hisfs*26 (c.73_74GT[1]) (c.75_76delGT); ClinVar=VCV000002249; Zygosity=Homozygous (PubMed=22311747).
Disease Autosomal recessive cytochrome b-positive chronic granulomatous disease type I (NCIt: C154314)
Chronic granulomatous disease (ORDO: Orphanet_379)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_V181 ! iPSC-CGD1.1
Sex of cell Male
Age at sampling Age unspecified
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=22311747

Markers:
AmelogeninX,Y
CSF1PO11,12
D3S135814,17
D5S81812,13
D7S82010,11
D8S117912,16
D13S31712,14
D16S5399,12
D18S5113,15
D21S1130,31.2
FGA18,19
Penta D9,14
Penta E12
TH016,9.3
TPOX8,10
vWA16,17

Run an STR similarity search on this cell line
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; Q54898217
Entry history
Entry creation16-Apr-2014
Last entry update19-Dec-2024
Version number12