Cellosaurus cell line SMCPGHi001-A (CVCL

Cellosaurus SMCPGHi001-A (CVCL_A1WW)

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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.Ala1046Val (c.3137C>T); ClinVar=VCV003366688; Zygosity=Heterozygous (PubMed=33839547).
Mutation; HGNC; HGNC:33; ABCA3; Simple; p.Arg1333Glyfs*24 (c.3997_3998delAG); ClinVar=VCV001317554; 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:

Amelogenin	X,Y
CSF1PO	10,11
D1S1656	15,16
D2S1338	20,22
D3S1358	17,18
D5S818	7,9
D6S1043	14,20
D7S820	10,12
D8S1179	12,13
D12S391	19,22
D13S317	8
D16S539	9
D18S51	14,16
D19S433	14
D21S11	30
FGA	20,21.2
Penta D	9,15
Penta E	17
TH01	7,9
TPOX	8,11
vWA	16,17

Publications

PubMed=33839547; DOI=10.1016/j.scr.2021.102286
Xiao-Juan Yin, Dan-Hua Zhao, Zhi-Chen Tian, Jia Chen, Jing-Han Chi, Yan Ke, Liu He, Xuan Zhang, Yan-Mei He, Zhi-Chun Feng;
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 creation

12-Jan-2021

Last entry update

27-Nov-2025

Version number