Cellosaurus cell line KUCFRi001-A (CVCL

Cellosaurus KUCFRi001-A (CVCL_QX60)

[Text version]

Cell line name

KUCFRi001-A

Synonyms

GM04594 iPSC

Accession

CVCL_QX60

Resource Identification Initiative

To cite this cell line use: KUCFRi001-A (RRID:CVCL_QX60)

Comments

From: Department of Biotechnology, College of Life Sciences and Biotechnology, Korea University; Seoul; South Korea.
Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.

Sequence variations

Mutation; HGNC; HGNC:4283; GJB1; Simple; p.Val139Met (c.415G>A); ClinVar=VCV000010433; Zygosity=Heterozygous (PubMed=28677541).

Disease

Charcot-Marie-Tooth neuropathy X type 1 (NCIt: C129068)
X-linked Charcot-Marie-Tooth disease type 1 (ORDO: Orphanet_101075)

Species of origin

Homo sapiens (Human) (NCBI Taxonomy: 9606)

Hierarchy

Parent: CVCL_GY21 (GM04594)

Sex of cell

Female

Age at sampling

36Y

Category

Induced pluripotent stem cell

STR profile

Source(s): PubMed=28677541

Markers:

Amelogenin	X
CSF1PO	10,11
D2S1338	19,24
D3S1358	11,17
D5S818	10,13
D7S820	10,11
D8S1179	13,14
D13S317	12,13
D16S539	13
D18S51	12
D19S433	13,16
D21S11	29,32.2
FGA	20,21
Penta D	11,15
Penta E	7,17
TH01	7,9
TPOX	8,11
vWA	16,17

Publications

PubMed=28677541; DOI=10.1016/j.scr.2017.03.006
Son D., Kang P.J., Yun W., You S.
Generation of induced pluripotent stem cell (iPSC) line from a 36-year-old Charcot-Marie-Tooth disease patient with GJB1 mutation (CMTX).
Stem Cell Res. 21:9-12(2017)

Cross-references

Cell line databases/resources

hPSCreg; KUCFRi001-A

Encyclopedic resources

Wikidata; Q54900697

Entry history

Entry creation

15-Nov-2017

Last entry update

19-Dec-2024

Version number