Cellosaurus cell line SDQLCHi013-A (CVCL

Cellosaurus SDQLCHi013-A (CVCL_YJ23)

[Text][XML][JSON]

Cell line name

SDQLCHi013-A

Accession

CVCL_YJ23

Resource Identification Initiative

To cite this cell line use: SDQLCHi013-A (RRID:CVCL_YJ23)

Comments

From: Qilu Children's Hospital of Shandong University; Jinan; China.
Population: Chinese; Han.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.

Sequence variations

Mutation; HGNC; HGNC:986; BCKDHA; Simple; p.Thr211Met (c.632C>T); ClinVar=VCV000093365; Zygosity=Heterozygous (PubMed=31775088).
Mutation; HGNC; HGNC:986; BCKDHA; Simple; p.Leu427_Ala428delinsPro (c.1280_1282delTGG); ClinVar=VCV000557742; Zygosity=Heterozygous (PubMed=31775088).

Disease

Maple syrup urine disease (NCIt: C34806)
Maple syrup urine disease (ORDO: Orphanet_511)

Species of origin

Homo sapiens (Human) (NCBI Taxonomy: 9606)

Sex of cell

Male

Age at sampling

Category

Induced pluripotent stem cell

STR profile

Source(s): PubMed=31775088

Markers:

Amelogenin	X,Y
CSF1PO	10,11
D2S1338	18,19
D3S1358	15,16
D5S818	10
D6S1043	18,20
D7S820	8,10
D8S1179	12,15
D12S391	17,18
D13S317	9,10
D16S539	9,11
D18S51	16,19
D19S433	14
D21S11	30
FGA	21,23
Penta D	11,13
Penta E	12,16
TH01	9
TPOX	8,11
vWA	16,18

Publications

PubMed=31775088; DOI=10.1016/j.scr.2019.101585
Hai-Yan Zhang, Yan-Yan Ma, Xiao-Mei Li, Xiao-Meng Yang, Yue Li, Jing-Yun Guan, Rui Dong, Zhong-Tao Gai, Yi Liu;
An integration-free iPSC line (SDQLCHi013-A) derived from a patient with maple syrup urine disease carrying compound heterozygote mutations in BCKDHA gene.
Stem Cell Res. 41:101585-101585(2019)

Cross-references

Cell line databases/resources

hPSCreg; SDQLCHi013-A

Encyclopedic resources

Wikidata; Q98129474

Entry history

Entry creation

19-Dec-2019

Last entry update

19-Dec-2024

Version number