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Cellosaurus CIRAi001-A (CVCL_QX84)

[Text version]
Cell line name CIRAi001-A
Synonyms HPS1816
Accession CVCL_QX84
Resource Identification Initiative To cite this cell line use: CIRAi001-A (RRID:CVCL_QX84)
Comments Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 4193; GCH1; Simple; c.626+1G>C; ClinVar=VCV000529415; Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=29034893).
Disease Dopa-responsive dystonia (NCIt: C116719)
Dopa-responsive dystonia (ORDO: Orphanet_255)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 20Y
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=29034893

Markers:
AmelogeninX,Y
CSF1PO11,12
D3S135818,20
D5S81812
D7S82011
D8S117914
D13S31711
D16S5399,11
D18S5114,15
D21S1128,31.2
FGA22,23
Penta D9,10
Penta E17,18
TH018,9
TPOX8,11
vWA17

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Publications

PubMed=29034893; DOI=10.1016/j.scr.2017.07.029
Murakami N., Ishikawa T., Kondo T., Imamura K., Tsukita K., Enami T., Funayama M., Shibukawa R., Matsumoto S., Izumi Y., Ohta E., Obata F., Kaji R., Inoue H.
Establishment of DYT5 patient-specific induced pluripotent stem cells with a GCH1 mutation.
Stem Cell Res. 24:36-39(2017)

Cross-references
Cell line collections (Providers) RCB; HPS1816
Cell line databases/resources hPSCreg; CIRAi001-A
Encyclopedic resources Wikidata; Q54813416
Entry history
Entry creation15-Nov-2017
Last entry update29-Jun-2023
Version number11