Cellosaurus cell line FAHXMUi001-A (CVCL

Cellosaurus FAHXMUi001-A (CVCL_D6IA)

[Text version]

Cell line name

FAHXMUi001-A

Synonyms

LQTS-iPSCs clone-02

Accession

CVCL_D6IA

Resource Identification Initiative

To cite this cell line use: FAHXMUi001-A (RRID:CVCL_D6IA)

Comments

From: The First Affiliated Hospital of Xinjiang Medical University; Xinjiang; China.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.

Sequence variations

Mutation; HGNC; HGNC:6294; KCNQ1; Simple; p.Gly219Glu (c.656G>A); ClinVar=VCV003003778; Zygosity=Heterozygous (PubMed=36010573).
Mutation; HGNC; HGNC:17993; TRPM4; Simple; p.Thr160Met (c.479C>T); ClinVar=VCV001743158; Zygosity=Heterozygous (PubMed=36010573).

Disease

Long QT syndrome 1 (NCIt: C85049)
Romano-Ward syndrome (ORDO: Orphanet_101016)

Species of origin

Homo sapiens (Human) (NCBI Taxonomy: 9606)

Sex of cell

Female

Age at sampling

Age unspecified

Category

Induced pluripotent stem cell

STR profile

Source(s): PubMed=36010573

Markers:

Amelogenin	X
CSF1PO	9,11
D1S1656	11,17
D2S1338	18,23
D3S1358	15,18
D5S818	10,11
D6S1043	18,20
D7S820	11
D8S1179	13,16
D13S317	12,13
D16S539	11,12
D18S51	14,21
D19S433	13,14
D21S11	30,31
FGA	23,24
Penta D	9,11
Penta E	11,12
TH01	6,7
TPOX	8,9
vWA	17,18

Publications

PubMed=36010573; DOI=10.3390/cells11162495; PMCID=PMC9406448
Wang F.-F., Han Y.-F., Sang W.-Y., Wang L., Liang X.-Y., Wang L., Xing Q., Guo Y.-K., Zhang J.-H., Zhang L., ZuKela T.-H., Xiaokereti J., Lu Y.-M., Zhou X.-H., Tang B.-P., Li Y.-D.
In vitro drug screening using iPSC-derived cardiomyocytes of a long QT-syndrome patient carrying KCNQ1 & TRPM4 dual mutation: an experimental personalized treatment.
Cells 11:2495.1-2495.17(2022)

Cross-references

Cell line databases/resources

hPSCreg; FAHXMUi001-A

Encyclopedic resources

Wikidata; Q127380841

Entry history

Entry creation

02-May-2024

Last entry update

19-Dec-2024

Version number