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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; 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 8Y
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=33232902

Markers:
AmelogeninX
CSF1PO11
D2S44112
D2S133823,24
D3S135816,17
D5S81811,12
D6S104310,12
D7S8209,12
D8S117914,15
D12S39119,22
D13S3178,11
D16S5399,13
D18S5113
D19S43313,15.2
D21S1129,30
FGA22,25
Penta D9,13
Penta E11
TH019,9.3
TPOX8,11
vWA14,18

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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 creation12-Jan-2021
Last entry update29-Jun-2023
Version number5