Cellosaurus cell line CD#01 iPSC (CVCL

Cellosaurus CD#01 iPSC (CVCL_A5RT)

[Text version]

Cell line name

CD#01 iPSC

Accession

CVCL_A5RT

Resource Identification Initiative

To cite this cell line use: CD#01 iPSC (RRID:CVCL_A5RT)

Comments

Cell type: Fibroblast; CL=CL_0000057.

Sequence variations

Mutation; HGNC; HGNC:756; ASPA; Simple; p.Glu129Argfs*8 (c.382delC); ClinVar=VCV000551932; Zygosity=Heterozygous (PubMed=33304759).
Mutation; HGNC; HGNC:756; ASPA; Simple; p.Arg168Cys (c.502C>T); ClinVar=VCV000813438; Zygosity=Heterozygous (PubMed=33304759).
Mutation; HGNC; HGNC:756; ASPA; Simple; p.Tyr231Tyr (c.693C>T); ClinVar=VCV000197621; Zygosity=Heterozygous (PubMed=33304759).

Disease

Canavan disease (NCIt: C84611)
Canavan disease (ORDO: Orphanet_141)

Species of origin

Homo sapiens (Human) (NCBI Taxonomy: 9606)

Hierarchy

Parent: CVCL_A5RS (FFF0082001)

Sex of cell

Male

Age at sampling

Category

Induced pluripotent stem cell

STR profile

Source(s): PubMed=33304759

Markers:

Amelogenin	X,Y
CSF1PO	12,13
D5S818	12
D7S820	10
D13S317	11,12
D16S539	9,10
D21S11	30,31
TH01	7,9.3
TPOX	8,12
vWA	14,17

Publications

PubMed=33304759; DOI=10.1002/advs.202002155; PMCID=PMC7709977
Li-Zhao Feng, Jian-Fei Chao, E. Tian, Li Li, Peng Ye, Mi Zhang, Xian-Wei Chen, Qi Cui, Gui-Hua Sun, Tao Zhou, Gerardo Felix ...Show all 24 authors... , Yue Qin, Wen-Dong Li, Edward David Meza, Jeremy Klein, Lucy Y. Ghoda, Wei-Dong Hu, Yong-Lun Luo, Wei Dang, David Hsu, Joseph D. Gold, Steven A. Goldman, Reuben Karl Matalon, Yan-Hong Shi; Show fewer authors
Cell-based therapy for Canavan disease using human iPSC-derived NPCs and OPCs.
Adv. Sci. (Weinh.) 7:2002155.1-2002155.19(2020)

Cross-references

Encyclopedic resources

Wikidata; Q107114630

Entry history

Entry creation

20-May-2021

Last entry update

19-Dec-2024

Version number