Cellosaurus cell line PSMi002-A (CVCL

Cellosaurus PSMi002-A (CVCL_VE81)

[Text version]

Cell line name

PSMi002-A

Synonyms

HDF30-JLNS-iPS

Accession

CVCL_VE81

Resource Identification Initiative

To cite this cell line use: PSMi002-A (RRID:CVCL_VE81)

Comments

From: Institution Fondazione IRCCS Policlinico San Matteo; Pavia; Italy.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.

Sequence variations

Mutation; HGNC; HGNC:6294; KCNQ1; Simple; p.Arg190Trp (c.568C>T) (p.Arg63Trp, c.187C>T); ClinVar=VCV000053070; Zygosity=Heterozygous (PubMed=29677589).
Mutation; HGNC; HGNC:6294; KCNQ1; Simple; p.Arg594Gln (c.1781G>A); ClinVar=VCV000053018; Zygosity=Heterozygous (PubMed=29677589).

Disease

Jervell and Lange Nielsen syndrome (NCIt: C84793)
Jervell and Lange-Nielsen syndrome (ORDO: Orphanet_90647)

Species of origin

Homo sapiens (Human) (NCBI Taxonomy: 9606)

Sex of cell

Female

Age at sampling

10Y

Category

Induced pluripotent stem cell

STR profile

Source(s): PubMed=29677589

Markers:

F13A01	6,14
F13B	8
FESFPS	10
LPL	10,11
Penta C	11,13
Penta D	10,13
Penta E	8,15

Publications

PubMed=29677589; DOI=10.1016/j.scr.2018.04.002
Mura M., Lee Y.-K., Ginevrino M., Zappatore R., Pisano F., Boni M., Dagradi F., Crotti L., Valente E.M., Schwartz P.J., Tse H.-F., Gnecchi M.
Generation of the human induced pluripotent stem cell (hiPSC) line PSMi002-A from a patient affected by the Jervell and Lange-Nielsen syndrome and carrier of two compound heterozygous mutations on the KCNQ1 gene.
Stem Cell Res. 29:157-161(2018)

Cross-references

Cell line databases/resources

hPSCreg; PSMi002-A

Encyclopedic resources

Wikidata; Q54948581

Entry history

Entry creation

14-May-2018

Last entry update

19-Dec-2024

Version number