Cellosaurus cell line KUCFRi002-A (CVCL

Cellosaurus KUCFRi002-A (CVCL_QX72)

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Cell line name

KUCFRi002-A

Synonyms

GM23721 iPSC

Accession

CVCL_QX72

Resource Identification Initiative

To cite this cell line use: KUCFRi002-A (RRID:CVCL_QX72)

Comments

From: Department of Biotechnology, College of Life Sciences and Biotechnology, Korea University; Seoul; South Korea.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.

Sequence variations

Mutation; HGNC; HGNC:7225; MPZ; Simple; p.Ser140Thr (c.418T>A); ClinVar=VCV000447730; Zygosity=Heterozygous (PubMed=29034895).

Disease

Charcot-Marie-Tooth disease type 1B (NCIt: C118782)
Charcot-Marie-Tooth disease type 1B (ORDO: Orphanet_101082)

Species of origin

Homo sapiens (Human) (NCBI Taxonomy: 9606)

Hierarchy

Parent: CVCL_M916 (GM23721)

Sex of cell

Female

Age at sampling

81Y

Category

Induced pluripotent stem cell

STR profile

Source(s): PubMed=29034895

Markers:

Amelogenin	X
CSF1PO	11,12
D2S1338	22,25
D3S1358	17,18
D5S818	11,12
D7S820	10
D8S1179	15
D13S317	10,11
D16S539	12
D18S51	15
D19S433	14,15
D21S11	30,32.2
FGA	21
Penta D	9,13
Penta E	7,15
TH01	9.3
TPOX	10,11
vWA	14,15

Publications

PubMed=29034895; DOI=10.1016/j.scr.2017.08.002
Daryeon Son, Phil Jun Kang, Wonjin Yun, Seungkwon You;
Generation of induced pluripotent stem cell (iPSC) line from Charcot-Marie-Tooth disease patient with MPZ mutation (CMT1B).
Stem Cell Res. 24:5-7(2017)

Cross-references

Cell line databases/resources

hPSCreg; KUCFRi002-A

Encyclopedic resources

Wikidata; Q54900698

Entry history

Entry creation

15-Nov-2017

Last entry update

19-Dec-2024

Version number