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Cellosaurus SMCPGHi001-A (CVCL_A1WW)

[Text version]
Cell line name SMCPGHi001-A
Synonyms SMCPGHi-ABCA3; SMCPGi001-A
Accession CVCL_A1WW
Resource Identification Initiative To cite this cell line use: SMCPGHi001-A (RRID:CVCL_A1WW)
Comments From: The Seven Medical Center of PLA General Hospital; Beijing; China.
Population: Chinese; Han.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:33; ABCA3; Simple; p.Arg1333Glyfs*24 (c.3997_3998delAG); ClinVar=VCV001317554; Zygosity=Heterozygous (PubMed=33839547).
  • Mutation; HGNC; HGNC:33; ABCA3; Simple; p.Ala1046Val (c.3137C>T); Zygosity=Heterozygous (PubMed=33839547).
Disease Pulmonary surfactant metabolism dysfunction-3 (NCIt: C99070)
Interstitial lung disease due to ABCA3 deficiency (ORDO: Orphanet_440402)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 49D
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=33839547

Markers:
AmelogeninX,Y
CSF1PO10,11
D1S165615,16
D2S133820,22
D3S135817,18
D5S8187,9
D6S104314,20
D7S82010,12
D8S117912,13
D12S39119,22
D13S3178
D16S5399
D18S5114,16
D19S43314
D21S1130
FGA20,21.2
Penta D9,15
Penta E17
TH017,9
TPOX8,11
vWA16,17

Run an STR similarity search on this cell line
Publications

PubMed=33839547; DOI=10.1016/j.scr.2021.102286
Yin X.-J., Zhao D.-H., Tian Z.-C., Chen J., Chi J.-H., Ke Y., He L., Zhang X., He Y.-M., Feng Z.-C.
Generation of an induced pluripotent stem cell line from a patient with surfactant metabolism dysfunction carrying ABCA3 mutations.
Stem Cell Res. 53:102286-102286(2021)

Cross-references
Cell line databases/resources hPSCreg; SMCPGHi001-A
Biological sample resources BioSamples; SAMEA7462439
Encyclopedic resources Wikidata; Q105511106
Entry history
Entry creation12-Jan-2021
Last entry update19-Dec-2024
Version number7