Cellosaurus cell line HIMRi003-A (CVCL

Cellosaurus HIMRi003-A (CVCL_D0FA)

[Text version]

Cell line name

HIMRi003-A

Synonyms

p.A46T CAV3 hiPSCs #2

Accession

CVCL_D0FA

Resource Identification Initiative

To cite this cell line use: HIMRi003-A (RRID:CVCL_D0FA)

Comments

From: Heimer Institute for Muscle Research; Bochum; Germany.
Population: Caucasian.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.

Sequence variations

Mutation; HGNC; HGNC:1529; CAV3; Simple; p.Ala46Thr (c.136G>A) (p.A47T); ClinVar=VCV000008281; Zygosity=Heterozygous (PubMed=37839261).

Disease

Rippling muscle disease 2 (NCIt: C148325)
Rippling muscle disease (ORDO: Orphanet_97238)

Species of origin

Homo sapiens (Human) (NCBI Taxonomy: 9606)

Sex of cell

Female

Age at sampling

38Y

Category

Induced pluripotent stem cell

STR profile

Source(s): PubMed=37839261

Markers:

Amelogenin	X
CSF1PO	10,11
D5S818	11,13
D8S1179	13
D16S539	11,13
FGA	24.2
TPOX	8,10
vWA	14,16

Publications

PubMed=37839261; DOI=10.1016/j.scr.2023.103220
Boeing A., Mavrommatis L., Daya N.M., Zhuge H., Volke L., Kocabas A., Kneifel M., Athamneh M.J., Krause K., Sudkamp N., Doring K., Theiss C., Roos A., Zaehres H., Guttsches A.-K., Vorgerd M.
Generation of two human iPSC lines (HIMRi002-A and HIMRi003-A) derived from caveolinopathy patients with rippling muscle disease.
Stem Cell Res. 72:103220-103220(2023)

Cross-references

Cell line databases/resources

hPSCreg; HIMRi003-A

Biological sample resources

BioSamples; SAMEA114267275

Encyclopedic resources

Wikidata; Q123031674

Entry history

Entry creation

05-Oct-2023

Last entry update

19-Dec-2024

Version number