Cellosaurus cell line CIRAi001-A (CVCL

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; 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:

Amelogenin	X,Y
CSF1PO	11,12
D3S1358	18,20
D5S818	12
D7S820	11
D8S1179	14
D13S317	11
D16S539	9,11
D18S51	14,15
D21S11	28,31.2
FGA	22,23
Penta D	9,10
Penta E	17,18
TH01	8,9
TPOX	8,11
vWA	17

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 creation

15-Nov-2017

Last entry update

19-Dec-2024

Version number