Cellosaurus cell line iPSC-CGD1.2 (CVCL

Cellosaurus iPSC-CGD1.2 (CVCL_V182)

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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:

Amelogenin	X,Y
CSF1PO	11,12
D3S1358	14,17
D5S818	12,13
D7S820	10,11
D8S1179	12,16
D13S317	12,14
D16S539	9,12
D18S51	13,15
D21S11	30,31.2
FGA	18,19
Penta D	9,14
Penta E	12
TH01	6,9.3
TPOX	8,10
vWA	16,17

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; Q54898217

Entry history

Entry creation

16-Apr-2014

Last entry update

19-Dec-2024

Version number