Cellosaurus cell line CIRAi001-A (CVCL

Cellosaurus CIRAi001-A (CVCL_QX84)

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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
Nagahisa Murakami, Taizo Ishikawa, Takayuki Kondo, Keiko Imamura, Kayoko Tsukita, Takako Enami, Misato Funayama, Ran Shibukawa, Shinichi Matsumoto, Yuishin Izumi, Etsuro Ohta ...Show all 14 authors... , Fumiya Obata, Ryuji Kaji, Haruhisa Inoue; Show fewer authors
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