Cellosaurus cell line PUFHi001-A (CVCL

Cellosaurus PUFHi001-A (CVCL_A2XY)

[Text version]

Cell line name

PUFHi001-A

Synonyms

QZY-iPSC

Accession

CVCL_A2XY

Resource Identification Initiative

To cite this cell line use: PUFHi001-A (RRID:CVCL_A2XY)

Comments

From: Peking University First Hospital; Beijing; China.
Population: Chinese.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.

Sequence variations

Mutation; HGNC; HGNC:6220; KCNA2; Simple; p.Pro405Leu (c.1214C>T); ClinVar=VCV000190325; Zygosity=Heterozygous (PubMed=33232902).

Disease

Developmental and epileptic encephalopathy 32 (NCIt: C155998)
Non-specific early-onset epileptic encephalopathy (ORDO: Orphanet_442835)

Species of origin

Homo sapiens (Human) (NCBI Taxonomy: 9606)

Sex of cell

Female

Age at sampling

Category

Induced pluripotent stem cell

STR profile

Source(s): PubMed=33232902

Markers:

Amelogenin	X
CSF1PO	11
D2S441	12
D2S1338	23,24
D3S1358	16,17
D5S818	11,12
D6S1043	10,12
D7S820	9,12
D8S1179	14,15
D12S391	19,22
D13S317	8,11
D16S539	9,13
D18S51	13
D19S433	13,15.2
D21S11	29,30
FGA	22,25
Penta D	9,13
Penta E	11
TH01	9,9.3
TPOX	8,11
vWA	14,18

Publications

PubMed=33232902; DOI=10.1016/j.scr.2020.102080
Gong P., Jiao X.-R., Zhang Y.-H., Yang Z.-X.
Generation of a human iPSC line from an epileptic encephalopathy patient with electrical status epilepticus during sleep carrying KCNA2 (p.P405L) mutation.
Stem Cell Res. 49:102080-102080(2020)

Cross-references

Cell line databases/resources

hPSCreg; PUFHi001-A

Encyclopedic resources

Wikidata; Q105510611

Entry history

Entry creation

12-Jan-2021

Last entry update

19-Dec-2024

Version number