ZJUCHi003-AHomo sapiens (Human)Induced pluripotent stem cell

Also known as: ZJUCHi003

AI Summary

No AI-generated summary available for this cell line.

Basic Information

Database ID	CVCL_D4ZF
Species	Homo sapiens (Human)
Tissue Source	Urine[UBERON:UBERON_0001088]

Disease Information

Disease	Zimmermann-Laband syndrome

DepMap Information

Known Sequence Variations

Type	Gene/Protein	Description	Zygosity	Note	Source
MutationSimple	KCNH1	p.Arg357Gln (c.1070G>A)	Heterozygous	De novo mutation	PubMed=38372889

Haplotype Information (STR Profile)

Short Tandem Repeat (STR) profile for cell line authentication.

Amelogenin

CSF1PO

10,12

D10S1248

13,14

D12S391

18,19

D13S317

8,12

D16S539

11,13

D18S51

14,15

D19S433

15,16

D1S1656

16,20.3

D21S11

28,30

D22S1045

11,15

D2S1338

19,24

D2S441

D3S1358

15,16

D5S818

7,11

D6S1043

11,17

D7S820

D8S1179

10,16

FGA

19,26

Penta D

8,13

Penta E

11,12

SE33

21,31.2

TH01

TPOX

vWA

14,16

Publications

Establishment and characterization of ZJUCHi003: an induced pluripotent stem cell line from a patient with Temple-Baraitser/Zimmermann-Laband syndrome carrying KCNH1 c.1070G > A (p.R357Q) variant.

Zhou Z.-L., Zhang B., Yu L., Jiang X.-L.

Hum. Cell 37:832-839(2024).

DOI PubMed